RET ret proto-oncogene

Annotation transcript: NM_020975.6

1462 unique variant annotations were identified in 1482 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-43572709-G-GTA c.3_4insTA p.A2* Nonsense 1/20 - 1
10-43572712-G-A c.6G>A p.A2= Synonymous 1/20 - 1
10-43572712-G-C c.6G>C p.A2= Synonymous 1/20 - 1
10-43572712-G-T c.6G>T p.A2= Synonymous 1/20 - 1
10-43572715-G-A c.9G>A p.K3= Synonymous 1/20 - 1
10-43572731-G-A c.25G>A p.A9T Missense 1/20 - 1
10-43572734-G-A c.28G>A p.G10R Missense 1/20 - 1
10-43572734-GGG-AAC c.28_30delinsAAC p.G10N Missense 1/20 - 2
10-43572734-G-T c.28G>T p.G10W Missense 1/20 - 1
10-43572735-G-A c.29G>A p.G10E Missense 1/20 - 1
10-43572736-G-A c.30G>A p.G10= Synonymous 1/20 - 1
10-43572736-G-C c.30G>C p.G10= Synonymous 1/20 - 1
10-43572736-G-T c.30G>T p.G10= Synonymous 1/20 - 1
10-43572738-T-G c.32T>G p.L11R Missense 1/20 - 1
10-43572739-G-A c.33G>A p.L11= Synonymous 1/20 - 1
10-43572740-CG-GC c.34_35delinsGC p.R12A Missense 1/20 - 1
10-43572741-G-C c.35G>C p.R12P Missense 1/20 - 2
10-43572741-G-T c.35G>T p.R12L Missense 1/20 - 1
10-43572743-CT-GC c.37_38delinsGC p.L13A Missense 1/20 - 3
10-43572748-TG-T c.42del p.L15Cfs*8 Frameshift 1/20 - 1
10-43572756-T-C c.50T>C p.L17P Missense 1/20 - 1
10-43572758-CT-GC c.52_53delinsGC p.L18A Missense 1/20 - 1
10-43572749-TTGCTGC-T c.53_58del p.L18_L19del InFrameDeletion 1/20 - 1
10-43572759-T-A c.53T>A p.L18Q Missense 1/20 - 1
10-43572759-T-C c.53T>C p.L18P Missense 1/20 - 1
10-43572759-T-G c.53T>G p.L18R Missense 1/20 - 1
10-43572749-TTGC-T c.56_58del p.L19del InFrameDeletion 1/20 - 2
10-43572762-T-C c.56T>C p.L19P Missense 1/20 - 2
10-43572763-G-GCTT c.58_59insTTC p.L19dup InFrameInsertion 1/20 - 1
10-43572763-G-GCTTCTTCTT c.58_59insTTCTTCTTC p.L17_L19dup InFrameInsertion 1/20 - 1
10-43572765-C-T c.59C>T p.P20L Missense 1/20 - 1
10-43572773-GG-AC c.67_68delinsAC p.G23T Missense 1/20 - 1
10-43572774-G-A c.68G>A p.G23D Missense 1/20 - 2
10-43572779-G-A c.73G>A p.V25M Missense 1/20 - 1
10-43573558-C-T c.73+779C>T - IntronicSNV - 1/19 2
10-43574592-T-C c.73+1813T>C - IntronicSNV - 1/19 1
10-43574936-T-C c.73+2157T>C - IntronicSNV - 1/19 4
10-43575599-C-T c.73+2820C>T - IntronicSNV - 1/19 1
10-43575625-T-G c.73+2846T>G - IntronicSNV - 1/19 5
10-43575883-T-C c.73+3104T>C - IntronicSNV - 1/19 1
10-43576221-G-A c.73+3442G>A - IntronicSNV - 1/19 1
10-43576249-A-G c.73+3470A>G - IntronicSNV - 1/19 2
10-43576249-A-T c.73+3470A>T - IntronicSNV - 1/19 2
10-43576567-G-C c.73+3788G>C - IntronicSNV - 1/19 1
10-43577026-G-A c.73+4247G>A - IntronicSNV - 1/19 1
10-43577026-G-C c.73+4247G>C - IntronicSNV - 1/19 1
10-43577873-A-T c.73+5094A>T - IntronicSNV - 1/19 1
10-43578779-A-C c.73+6000A>C - IntronicSNV - 1/19 4
10-43578915-T-A c.73+6136T>A - IntronicSNV - 1/19 1
10-43578915-T-G c.73+6136T>G - IntronicSNV - 1/19 1
10-43578953-A-G c.73+6174A>G - IntronicSNV - 1/19 1
10-43579073-C-G c.73+6294C>G - IntronicSNV - 1/19 2
10-43579073-C-T c.73+6294C>T - IntronicSNV - 1/19 2
10-43579530-C-T c.73+6751C>T - IntronicSNV - 1/19 1
10-43579536-G-A c.73+6757G>A - IntronicSNV - 1/19 1
10-43579536-G-C c.73+6757G>C - IntronicSNV - 1/19 1
10-43579592-T-C c.73+6813T>C - IntronicSNV - 1/19 1
10-43580015-A-C c.73+7236A>C - IntronicSNV - 1/19 1
10-43580015-A-G c.73+7236A>G - IntronicSNV - 1/19 1
10-43580215-G-A c.73+7436G>A - IntronicSNV - 1/19 1
10-43580215-G-C c.73+7436G>C - IntronicSNV - 1/19 1
10-43580224-C-A c.73+7445C>A - IntronicSNV - 1/19 1
10-43580773-G-A c.73+7994G>A - IntronicSNV - 1/19 1
10-43580773-G-C c.73+7994G>C - IntronicSNV - 1/19 1
10-43582056-T-C c.73+9277T>C - IntronicSNV - 1/19 79
10-43582273-A-C c.73+9494A>C - IntronicSNV - 1/19 9
10-43582273-A-T c.73+9494A>T - IntronicSNV - 1/19 8
10-43583150-A-G c.73+10371A>G - IntronicSNV - 1/19 3
10-43583150-A-T c.73+10371A>T - IntronicSNV - 1/19 3
10-43584148-C-T c.73+11369C>T - IntronicSNV - 1/19 3
10-43584256-T-C c.73+11477T>C - IntronicSNV - 1/19 3
10-43584416-C-T c.74-11491C>T - IntronicSNV - 1/19 2
10-43585621-T-G c.74-10286T>G - IntronicSNV - 1/19 2
10-43585874-T-C c.74-10033T>C - IntronicSNV - 1/19 1
10-43585889-T-C c.74-10018T>C - IntronicSNV - 1/19 1
10-43587859-T-C c.74-8048T>C - IntronicSNV - 1/19 1
10-43588196-G-A c.74-7711G>A - IntronicSNV - 1/19 3
10-43588313-A-G c.74-7594A>G - IntronicSNV - 1/19 2
10-43588381-T-C c.74-7526T>C - IntronicSNV - 1/19 1
10-43588429-C-T c.74-7478C>T - IntronicSNV - 1/19 3
10-43588574-G-C c.74-7333G>C - IntronicSNV - 1/19 1
10-43588574-G-T c.74-7333G>T - IntronicSNV - 1/19 1
10-43588918-A-G c.74-6989A>G - IntronicSNV - 1/19 2
10-43589649-C-A c.74-6258C>A - IntronicSNV - 1/19 1
10-43589649-C-G c.74-6258C>G - IntronicSNV - 1/19 1
10-43589649-C-T c.74-6258C>T - IntronicSNV - 1/19 1
10-43590115-T-C c.74-5792T>C - IntronicSNV - 1/19 3
10-43590240-T-C c.74-5667T>C - IntronicSNV - 1/19 1
10-43590240-T-G c.74-5667T>G - IntronicSNV - 1/19 1
10-43590868-T-C c.74-5039T>C - IntronicSNV - 1/19 1
10-43590868-T-G c.74-5039T>G - IntronicSNV - 1/19 1
10-43590901-G-A c.74-5006G>A - IntronicSNV - 1/19 1
10-43590901-G-C c.74-5006G>C - IntronicSNV - 1/19 1
10-43590901-G-T c.74-5006G>T - IntronicSNV - 1/19 1
10-43591403-A-G c.74-4504A>G - IntronicSNV - 1/19 2
10-43592158-T-C c.74-3749T>C - IntronicSNV - 1/19 1
10-43592204-A-T c.74-3703A>T - IntronicSNV - 1/19 1
10-43592809-G-C c.74-3098G>C - IntronicSNV - 1/19 2
10-43593043-A-G c.74-2864A>G - IntronicSNV - 1/19 3
10-43594453-T-A c.74-1454T>A - IntronicSNV - 1/19 3
10-43594453-T-C c.74-1454T>C - IntronicSNV - 1/19 3
10-43594545-C-T c.74-1362C>T - IntronicSNV - 1/19 5
10-43594578-G-A c.74-1329G>A - IntronicSNV - 1/19 1
10-43594578-G-C c.74-1329G>C - IntronicSNV - 1/19 1
10-43594617-T-C c.74-1290T>C - IntronicSNV - 1/19 1
10-43595194-C-G c.74-713C>G - IntronicSNV - 1/19 1
10-43595781-G-A c.74-126G>A - IntronicSNV - 1/19 11
10-43595781-G-T c.74-126G>T - IntronicSNV - 1/19 11
10-43595909-GCA-TTT c.76_78delinsTTT p.A26F Missense 2/20 - 1
10-43595910-C-T c.77C>T p.A26V Missense 2/20 - 1
10-43595911-A-C c.78A>C p.A26= Synonymous 2/20 - 1
10-43595912-T-G c.79T>G p.L27V Missense 2/20 - 1
10-43595928-C-T c.95C>T p.S32L Missense 2/20 - 2
10-43595935-T-A c.102T>A p.D34E Missense 2/20 - 1
10-43595935-T-G c.102T>G p.D34E Missense 2/20 - 1
10-43595939-TA-CT c.106_107delinsCT p.Y36L Missense 2/20 - 1
10-43595943-G-T c.110G>T p.W37L Missense 2/20 - 1
10-43595958-T-C c.125T>C p.V42A Missense 2/20 - 1
10-43595958-T-G c.125T>G p.V42G Missense 2/20 - 1
10-43595961-A-T c.128A>T p.D43V Missense 2/20 - 1
10-43595962-C-CA c.129_130insA p.Q44Tfs*18 Frameshift 2/20 - 1
10-43595963-C-T c.130C>T p.Q44* Nonsense 2/20 - 1
10-43595966-GC-AA c.133_134delinsAA p.A45K Missense 2/20 - 1
10-43595966-GCA-CAT c.133_135delinsCAT p.A45H Missense 2/20 - 1
10-43595966-GCA-TGT c.133_135delinsTGT p.A45C Missense 2/20 - 1
10-43595966-GCA-TTT c.133_135delinsTTT p.A45F Missense 2/20 - 1
10-43595967-C-A c.134C>A p.A45E Missense 2/20 - 1
10-43595967-CA-AC c.134_135delinsAC p.A45D Missense 2/20 - 2
10-43595967-C-G c.134C>G p.A45G Missense 2/20 - 1
10-43595967-C-T c.134C>T p.A45V Missense 2/20 - 1
10-43595968-A-C c.135A>C p.A45= Synonymous 2/20 - 36
10-43595968-A-G c.135A>G p.A45= Synonymous 2/20 - 42
10-43595968-A-T c.135A>T p.A45= Synonymous 2/20 - 4
10-43595970-CC-AG c.137_138delinsAG p.A46E Missense 2/20 - 1
10-43595972-G-A c.139G>A p.G47S Missense 2/20 - 1
10-43595975-A-T c.142A>T p.T48S Missense 2/20 - 1
10-43595976-C-T c.143C>T p.T48M Missense 2/20 - 1
10-43595984-C-A c.151C>A p.L51M Missense 2/20 - 1
10-43595990-G-T c.157G>T p.V53F Missense 2/20 - 1
10-43595991-TC-AG c.158_159delinsAG p.V53E Missense 2/20 - 1
10-43595996-G-A c.163G>A p.A55T Missense 2/20 - 2
10-43595999-C-A c.166C>A p.L56M Missense 2/20 - 13
10-43596002-CG-TA c.169_170delinsTA p.R57* Nonsense 2/20 - 1
10-43596002-C-T c.169C>T p.R57W Missense 2/20 - 3
10-43596003-G-A c.170G>A p.R57Q Missense 2/20 - 1
10-43596005-G-A c.172G>A p.D58N Missense 2/20 - 1
10-43596008-G-A c.175G>A p.A59T Missense 2/20 - 1
10-43596008-G-T c.175G>T p.A59S Missense 2/20 - 1
10-43596009-C-T c.176C>T p.A59V Missense 2/20 - 2
10-43596015-A-C c.182A>C p.E61A Missense 2/20 - 1
10-43596015-A-G c.182A>G p.E61G Missense 2/20 - 1
10-43596015-A-T c.182A>T p.E61V Missense 2/20 - 1
10-43596023-CCC-AAG c.190_192delinsAAG p.P64K Missense 2/20 - 2
10-43596023-C-T c.190C>T p.P64S Missense 2/20 - 1
10-43596026-A-G c.193A>G p.S65G Missense 2/20 - 1
10-43596027-G-C c.194G>C p.S65T Missense 2/20 - 1
10-43596032-CG-GC c.199_200delinsGC p.R67A Missense 2/20 - 1
10-43596032-C-T c.199C>T p.R67C Missense 2/20 - 1
10-43596033-G-A c.200G>A p.R67H Missense 2/20 - 6
10-43596033-G-GTCC c.200_201insTCC p.R67_L68insP InFrameInsertion 2/20 - 1
10-43596035-CTG-GAC c.202_204delinsGAC p.L68D Missense 2/20 - 1
10-43596036-T-A c.203T>A p.L68Q Missense 2/20 - 1
10-43596038-G-T c.205G>T p.G69C Missense 2/20 - 1
10-43596041-C-A c.208C>A p.Q70K Missense 2/20 - 1
10-43596048-TC-AA c.215_216delinsAA p.L72Q Missense 2/20 - 1
10-43596057-C-T c.224C>T p.T75M Missense 2/20 - 2
10-43596060-A-G c.227A>G p.Y76C Missense 2/20 - 2
10-43596061-C-T c.228C>T p.Y76= Synonymous 2/20 - 1
10-43596062-C-T c.229C>T p.R77C Missense 2/20 - 11
10-43596063-G-A c.230G>A p.R77H Missense 2/20 - 4
10-43596063-GC-AA c.230_231delinsAA p.R77Q Missense 2/20 - 1
10-43596063-G-T c.230G>T p.R77L Missense 2/20 - 3
10-43596068-C-T c.235C>T p.R79W Missense 2/20 - 2
10-43596069-G-A c.236G>A p.R79Q Missense 2/20 - 2
10-43596069-G-T c.236G>T p.R79L Missense 2/20 - 1
10-43596070-G-T c.237G>T p.R79= Synonymous 2/20 - 1
10-43596074-C-T c.241C>T p.H81Y Missense 2/20 - 1
10-43596078-A-G c.245A>G p.E82G Missense 2/20 - 1
10-43596082-C-CA c.251dup p.N84Kfs*15 Frameshift 2/20 - 1
10-43596087-G-A c.254G>A p.W85* Nonsense 2/20 - 5
10-43596088-G-A c.255G>A p.W85* Nonsense 2/20 - 1
10-43596091-C-G c.258C>G p.I86M Missense 2/20 - 1
10-43596092-T-C c.259T>C p.C87R Missense 2/20 - 1
10-43596095-A-G c.262A>G p.I88V Missense 2/20 - 1
10-43596095-ATC-TGG c.262_264delinsTGG p.I88W Missense 2/20 - 1
10-43596097-C-A c.264C>A p.I88= Synonymous 2/20 - 1
10-43596099-A-G c.266A>G p.Q89R Missense 2/20 - 1
10-43596101-G-A c.268G>A p.E90K Missense 2/20 - 2
10-43596104-GA-TG c.271_272delinsTG p.D91C Missense 2/20 - 1
10-43596105-A-C c.272A>C p.D91A Missense 2/20 - 1
10-43596110-G-A c.277G>A p.G93S Missense 2/20 - 3
10-43596111-G-C c.278G>C p.G93A Missense 2/20 - 9
10-43596113-CT-GC c.280_281delinsGC p.L94A Missense 2/20 - 1
10-43596119-T-G c.286T>G p.Y96D Missense 2/20 - 1
10-43596120-A-C c.287A>C p.Y96S Missense 2/20 - 2
10-43596120-A-G c.287A>G p.Y96C Missense 2/20 - 1
10-43596122-CT-GC c.289_290delinsGC p.L97A Missense 2/20 - 1
10-43596128-C-T c.295C>T p.R99W Missense 2/20 - 2
10-43596131-AG-CC c.298_299delinsCC p.S100P Missense 2/20 - 10
10-43596131-AGC-TGA c.298_300delinsTGA p.S100* Nonsense 2/20 - 1
10-43596133-C-T c.300C>T p.S100= Synonymous 2/20 - 1
10-43596134-CTG-ATC c.301_303delinsATC p.L101I Missense 2/20 - 1
10-43596138-A-T c.305A>T p.D102V Missense 2/20 - 1
10-43596147-CC-AA c.314_315delinsAA p.S105* Nonsense 2/20 - 1
10-43596158-C-A c.325C>A p.L109I Missense 2/20 - 1
10-43596162-G-T c.329G>T p.S110I Missense 2/20 - 1
10-43596164-G-T c.331G>T p.V111F Missense 2/20 - 1
10-43596166-C-G c.333C>G p.V111= Synonymous 2/20 - 1
10-43596167-C-A c.334C>A p.R112S Missense 2/20 - 1
10-43596167-C-G c.334C>G p.R112G Missense 2/20 - 1
10-43596168-GC-AA c.335_336delinsAA p.R112Q Missense 2/20 - 1
10-43596179-G-A c.337+9G>A - IntronicSNV - 2/19 5
10-43596181-C-T c.337+11C>T - IntronicSNV - 2/19 2
10-43596204-C-T c.337+34C>T - IntronicSNV - 2/19 1
10-43596206-A-C c.337+36A>C - IntronicSNV - 2/19 1
10-43596210-C-T c.337+40C>T - IntronicSNV - 2/19 1
10-43596211-A-C c.337+41A>C - IntronicSNV - 2/19 1
10-43596216-T-C c.337+46T>C - IntronicSNV - 2/19 1
10-43596728-C-T c.337+558C>T - IntronicSNV - 2/19 1
10-43597793-G-A c.341G>A p.R114H Missense 3/20 - 6
10-43597793-G-C c.341G>C p.R114P Missense 3/20 - 1
10-43597801-C-A c.349C>A p.P117T Missense 3/20 - 1
10-43597800-TC-T c.352del p.L118Cfs*106 Frameshift 3/20 - 1
10-43597821-C-A c.369C>A p.L123= Synonymous 3/20 - 1
10-43597821-C-G c.369C>G p.L123= Synonymous 3/20 - 1
10-43597821-C-T c.369C>T p.L123= Synonymous 3/20 - 1
10-43597827-C-A c.375C>A p.V125= Synonymous 3/20 - 2
10-43597845-C-A c.393C>A p.S131= Synonymous 3/20 - 1
10-43597845-C-T c.393C>T p.S131= Synonymous 3/20 - 1
10-43597849-C-T c.397C>T p.R133C Missense 3/20 - 2
10-43597850-G-A c.398G>A p.R133H Missense 3/20 - 2
10-43597856-G-A c.404G>A p.G135D Missense 3/20 - 1
10-43597861-T-G c.409T>G p.C137G Missense 3/20 - 1
10-43597867-T-TG c.417dup p.P140Afs*71 Frameshift 3/20 - 1
10-43597869-G-T c.417G>T p.W139C Missense 3/20 - 1
10-43597870-C-T c.418C>T p.P140S Missense 3/20 - 1
10-43597873-G-T c.421G>T p.G141C Missense 3/20 - 1
10-43597876-T-A c.424T>A p.C142S Missense 3/20 - 1
10-43597877-G-C c.425G>C p.C142S Missense 3/20 - 1
10-43597879-G-A c.427G>A p.A143T Missense 3/20 - 1
10-43597879-GCC-ATG c.427_429delinsATG p.A143M Missense 3/20 - 2
10-43597882-C-T c.430C>T p.R144C Missense 3/20 - 1
10-43597883-G-A c.431G>A p.R144H Missense 3/20 - 1
10-43597885-G-C c.433G>C p.V145L Missense 3/20 - 1
10-43597885-G-T c.433G>T p.V145L Missense 3/20 - 1
10-43597886-T-G c.434T>G p.V145G Missense 3/20 - 5
10-43597888-T-C c.436T>C p.Y146H Missense 3/20 - 1
10-43597889-ACTT-A c.440_442del p.F147del InFrameDeletion 3/20 - 2
10-43597894-TC-AA c.442_443delinsAA p.S148N Missense 3/20 - 1
10-43597899-C-T c.447C>T p.F149= Synonymous 3/20 - 1
10-43597910-C-A c.458C>A p.S153Y Missense 3/20 - 1
10-43597910-C-T c.458C>T p.S153F Missense 3/20 - 1
10-43597916-C-T c.464C>T p.P155L Missense 3/20 - 1
10-43597918-G-T c.466G>T p.A156S Missense 3/20 - 1
10-43597920-C-T c.468C>T p.A156= Synonymous 3/20 - 1
10-43597921-TG-AC c.469_470delinsAC p.C157T Missense 3/20 - 1
10-43597922-G-A c.470G>A p.C157Y Missense 3/20 - 1
10-43597937-C-T c.485C>T p.P162L Missense 3/20 - 1
10-43597939-C-G c.487C>G p.R163G Missense 3/20 - 1
10-43597939-C-T c.487C>T p.R163W Missense 3/20 - 2
10-43597942-G-A c.490G>A p.E164K Missense 3/20 - 1
10-43597946-T-A c.494T>A p.L165H Missense 3/20 - 1
10-43597963-AG-CA c.511_512delinsCA p.R171Q Missense 3/20 - 1
10-43597964-G-T c.512G>T p.R171M Missense 3/20 - 1
10-43597973-TCCG-T c.523_525del p.R175del InFrameDeletion 3/20 - 1
10-43597975-CGC-TGA c.523_525delinsTGA p.R175* Nonsense 3/20 - 1
10-43597975-C-T c.523C>T p.R175C Missense 3/20 - 2
10-43597976-G-A c.524G>A p.R175H Missense 3/20 - 2
10-43597979-T-C c.527T>C p.I176T Missense 3/20 - 1
10-43597981-CGG-AGC c.529_531delinsAGC p.R177S Missense 3/20 - 1
10-43597981-CG-TA c.529_530delinsTA p.R177* Nonsense 3/20 - 1
10-43597981-C-T c.529C>T p.R177W Missense 3/20 - 1
10-43597982-G-A c.530G>A p.R177Q Missense 3/20 - 1
10-43597990-C-T c.538C>T p.R180* Nonsense 3/20 - 2
10-43597991-G-A c.539G>A p.R180Q Missense 3/20 - 3
10-43597991-G-C c.539G>C p.R180P Missense 3/20 - 1
10-43597994-C-T c.542C>T p.P181L Missense 3/20 - 1
10-43598011-C-T c.559C>T p.Q187* Nonsense 3/20 - 2
10-43598012-A-T c.560A>T p.Q187L Missense 3/20 - 1
10-43598013-AG-A c.561del p.Q187Hfs*37 Frameshift 3/20 - 1
10-43598015-T-C c.563T>C p.F188S Missense 3/20 - 1
10-43598018-G-A c.566G>A p.R189H Missense 3/20 - 1
10-43598023-C-T c.571C>T p.L191= Synonymous 3/20 - 1
10-43598025-G-A c.573G>A p.L191= Synonymous 3/20 - 1
10-43598025-G-C c.573G>C p.L191= Synonymous 3/20 - 1
10-43598025-G-T c.573G>T p.L191= Synonymous 3/20 - 1
10-43598029-GTG-ATC c.577_579delinsATC p.V193I Missense 3/20 - 1
10-43598034-G-C c.582G>C p.Q194H Missense 3/20 - 1
10-43598035-T-C c.583T>C p.F195L Missense 3/20 - 1
10-43598040-G-C c.588G>C p.L196F Missense 3/20 - 1
10-43598045-C-G c.593C>G p.P198R Missense 3/20 - 1
10-43598053-AG-CT c.601_602inv p.S201L Missense 3/20 - 1
10-43598054-G-A c.602G>A p.S201N Missense 3/20 - 1
10-43598056-G-A c.604G>A p.V202M Missense 3/20 - 4
10-43598064-C-A c.612C>A p.Y204* Nonsense 3/20 - 1
10-43598064-C-T c.612C>T p.Y204= Synonymous 3/20 - 1
10-43598065-AGG-CAT c.613_615delinsCAT p.R205H Missense 3/20 - 1
10-43598065-AG-TA c.613_614delinsTA p.R205* Nonsense 3/20 - 1
10-43598066-G-T c.614G>T p.R205M Missense 3/20 - 1
10-43598067-G-C c.615G>C p.R205S Missense 3/20 - 1
10-43598067-G-T c.615G>T p.R205S Missense 3/20 - 1
10-43598069-T-A c.617T>A p.L206H Missense 3/20 - 1
10-43600359-G-A c.626-41G>A - IntronicSNV - 3/19 1
10-43600402-G-A c.628G>A p.E210K Missense 4/20 - 2
10-43600406-G-C c.632G>C p.G211A Missense 4/20 - 1
10-43600411-C-T c.637C>T p.P213S Missense 4/20 - 1
10-43600413-C-A c.639C>A p.P213= Synonymous 4/20 - 1
10-43600418-G-T c.644G>T p.R215L Missense 4/20 - 2
10-43600420-T-A c.646T>A p.C216S Missense 4/20 - 1
10-43600421-G-C c.647G>C p.C216S Missense 4/20 - 1
10-43600424-C-T c.650C>T p.A217V Missense 4/20 - 1
10-43600425-C-A c.651C>A p.A217= Synonymous 4/20 - 1
10-43600425-C-G c.651C>G p.A217= Synonymous 4/20 - 1
10-43600425-C-T c.651C>T p.A217= Synonymous 4/20 - 1
10-43600428-G-A c.654G>A p.P218= Synonymous 4/20 - 1
10-43600429-GAC-TAA c.655_657delinsTAA p.D219* Nonsense 4/20 - 1
10-43600433-G-A c.659G>A p.S220N Missense 4/20 - 1
10-43600435-CT-AA c.661_662delinsAA p.L221K Missense 4/20 - 1
10-43600436-T-A c.662T>A p.L221Q Missense 4/20 - 1
10-43600441-G-A c.667G>A p.V223M Missense 4/20 - 1
10-43600441-G-C c.667G>C p.V223L Missense 4/20 - 1
10-43600442-TG-AC c.668_669delinsAC p.V223D Missense 4/20 - 1
10-43600445-G-T c.671G>T p.S224I Missense 4/20 - 1
10-43600450-CG-GC c.676_677delinsGC p.R226A Missense 4/20 - 1
10-43600452-C-T c.678C>T p.R226= Synonymous 4/20 - 1
10-43600465-C-T c.691C>T p.R231C Missense 4/20 - 1
10-43600466-G-A c.692G>A p.R231H Missense 4/20 - 4
10-43600474-C-A c.700C>A p.R234= Synonymous 4/20 - 1
10-43600474-C-T c.700C>T p.R234W Missense 4/20 - 1
10-43600476-G-A c.702G>A p.R234= Synonymous 4/20 - 1
10-43600476-G-C c.702G>C p.R234= Synonymous 4/20 - 1
10-43600476-G-T c.702G>T p.R234= Synonymous 4/20 - 1
10-43600475-G-C c.701G>C p.R234P Missense 4/20 - 1
10-43600486-G-T c.712G>T p.E238* Nonsense 4/20 - 2
10-43600485-CGAGCTGGT-C c.713_720del p.E238Gfs*113 Frameshift 4/20 - 1
10-43600492-G-C c.718G>C p.V240L Missense 4/20 - 1
10-43600496-CC-AG c.722_723delinsAG p.A241E Missense 4/20 - 1
10-43600498-G-A c.724G>A p.V242M Missense 4/20 - 1
10-43600498-G-C c.724G>C p.V242L Missense 4/20 - 1
10-43600498-G-T c.724G>T p.V242L Missense 4/20 - 1
10-43600500-TG-T c.726del p.C243Afs*12 Frameshift 4/20 - 1
10-43600505-C-T c.731C>T p.T244I Missense 4/20 - 1
10-43600507-G-A c.733G>A p.V245M Missense 4/20 - 1
10-43600508-TGCACGCC-T c.736_742del p.H246Afs*7 Frameshift 4/20 - 1
10-43600516-G-A c.742G>A p.G248S Missense 4/20 - 1
10-43600517-G-A c.743G>A p.G248D Missense 4/20 - 1
10-43600517-G-T c.743G>T p.G248V Missense 4/20 - 1
10-43600520-C-G c.746C>G p.A249G Missense 4/20 - 1
10-43600522-C-T c.748C>T p.R250C Missense 4/20 - 1
10-43600523-G-C c.749G>C p.R250P Missense 4/20 - 1
10-43600516-GGC-G c.750_751del p.E251Gfs*102 Frameshift 4/20 - 1
10-43600526-A-G c.752A>G p.E251G Missense 4/20 - 1
10-43600528-G-A c.754G>A p.E252K Missense 4/20 - 1
10-43600528-G-T c.754G>T p.E252* Nonsense 4/20 - 4
10-43600541-T-C c.767T>C p.V256A Missense 4/20 - 1
10-43600543-C-A c.769C>A p.P257T Missense 4/20 - 1
10-43600545-C-A c.771C>A p.P257= Synonymous 4/20 - 1
10-43600545-C-G c.771C>G p.P257= Synonymous 4/20 - 1
10-43600545-C-T c.771C>T p.P257= Synonymous 4/20 - 1
10-43600552-G-A c.778G>A p.V260M Missense 4/20 - 1
10-43600559-T-C c.785T>C p.V262A Missense 4/20 - 2
10-43600563-C-G c.789C>G p.Y263* Nonsense 4/20 - 4
10-43600577-C-A c.803C>A p.S268* Nonsense 4/20 - 1
10-43600579-G-A c.805G>A p.A269T Missense 4/20 - 1
10-43600582-C-G c.808C>G p.P270A Missense 4/20 - 1
10-43600583-C-T c.809C>T p.P270L Missense 4/20 - 3
10-43600587-C-G c.813C>G p.T271= Synonymous 4/20 - 1
10-43600591-C-T c.817C>T p.P273S Missense 4/20 - 1
10-43600592-C-A c.818C>A p.P273H Missense 4/20 - 1
10-43600594-CG-C c.820del p.A274Rfs*38 Frameshift 4/20 - 1
10-43600595-C-T c.821C>T p.A274V Missense 4/20 - 1
10-43600600-G-T c.826G>T p.V276F Missense 4/20 - 1
10-43600601-T-C c.827T>C p.V276A Missense 4/20 - 1
10-43600601-T-G c.827T>G p.V276G Missense 4/20 - 1
10-43600604-A-G c.830A>G p.D277G Missense 4/20 - 2
10-43600606-A-C c.832A>C p.T278P Missense 4/20 - 1
10-43600606-A-G c.832A>G p.T278A Missense 4/20 - 2
10-43600607-C-A c.833C>A p.T278N Missense 4/20 - 13
10-43600609-G-A c.835G>A p.A279T Missense 4/20 - 2
10-43600612-AG-TT c.838_839delinsTT p.S280F Missense 4/20 - 1
10-43600613-G-C c.839G>C p.S280T Missense 4/20 - 1
10-43600616-C-T c.842C>T p.A281V Missense 4/20 - 1
10-43600615-GC-G c.843del p.V282Wfs*30 Frameshift 4/20 - 1
10-43600618-G-T c.844G>T p.V282L Missense 4/20 - 1
10-43600618-G-GT c.845dup p.V283Gfs*71 Frameshift 4/20 - 1
10-43600626-G-C c.852G>C p.E284D Missense 4/20 - 1
10-43600626-G-T c.852G>T p.E284D Missense 4/20 - 1
10-43600629-C-A c.855C>A p.F285L Missense 4/20 - 1
10-43600629-C-G c.855C>G p.F285L Missense 4/20 - 1
10-43600630-A-G c.856A>G p.K286E Missense 4/20 - 2
10-43600634-G-A c.860G>A p.R287Q Missense 4/20 - 2
10-43600663-G-T c.867+22G>T - IntronicSNV - 4/19 1
10-43600689-A-G c.867+48A>G - IntronicSNV - 4/19 5
10-43601415-G-C c.868-409G>C - IntronicSNV - 4/19 1
10-43601415-G-T c.868-409G>T - IntronicSNV - 4/19 1
10-43601727-G-A c.868-97G>A - IntronicSNV - 4/19 1
10-43601749-T-C c.868-75T>C - IntronicSNV - 4/19 3
10-43601752-A-G c.868-72A>G - IntronicSNV - 4/19 1
10-43601761-G-C c.868-63G>C - IntronicSNV - 4/19 1
10-43601805-C-T c.868-19C>T - IntronicSNV - 4/19 1
10-43601830-G-A c.874G>A p.V292M Missense 5/20 - 16
10-43601845-C-T c.889C>T p.R297C Missense 5/20 - 1
10-43601846-G-A c.890G>A p.R297H Missense 5/20 - 1
10-43601848-G-T c.892G>T p.V298F Missense 5/20 - 1
10-43601854-G-A c.898G>A p.D300N Missense 5/20 - 2
10-43601856-T-A c.900T>A p.D300E Missense 5/20 - 2
10-43601856-T-G c.900T>G p.D300E Missense 5/20 - 2
10-43601860-G-C c.904G>C p.D302H Missense 5/20 - 1
10-43601872-G-A c.916G>A p.A306T Missense 5/20 - 1
10-43601876-C-T c.920C>T p.S307L Missense 5/20 - 1
10-43601881-G-A c.925G>A p.E309K Missense 5/20 - 1
10-43601884-CTG-TGT c.928_930delinsTGT p.L310C Missense 5/20 - 1
10-43601891-G-A c.935G>A p.R312K Missense 5/20 - 1
10-43601893-C-G c.937C>G p.R313G Missense 5/20 - 1
10-43601893-CG-TA c.937_938delinsTA p.R313* Nonsense 5/20 - 1
10-43601893-C-T c.937C>T p.R313W Missense 5/20 - 3
10-43601894-G-A c.938G>A p.R313Q Missense 5/20 - 2
10-43601894-G-C c.938G>C p.R313P Missense 5/20 - 1
10-43601897-A-G c.941A>G p.Y314C Missense 5/20 - 1
10-43601899-A-G c.943A>G p.T315A Missense 5/20 - 1
10-43601900-C-T c.944C>T p.T315I Missense 5/20 - 62
10-43601903-G-T c.947G>T p.S316I Missense 5/20 - 1
10-43601909-T-C c.953T>C p.L318P Missense 5/20 - 1
10-43601913-C-G c.957C>G p.L319= Synonymous 5/20 - 1
10-43601916-C-A c.960C>A p.P320= Synonymous 5/20 - 1
10-43601916-C-G c.960C>G p.P320= Synonymous 5/20 - 1
10-43601916-C-T c.960C>T p.P320= Synonymous 5/20 - 1
10-43601917-G-A c.961G>A p.G321R Missense 5/20 - 4
10-43601917-G-C c.961G>C p.G321R Missense 5/20 - 3
10-43601917-GG-AA c.961_962delinsAA p.G321K Missense 5/20 - 1
10-43601917-G-T c.961G>T p.G321W Missense 5/20 - 1
10-43601928-G-C c.972G>C p.W324C Missense 5/20 - 1
10-43601929-G-A c.973G>A p.A325T Missense 5/20 - 1
10-43601932-C-T c.976C>T p.Q326* Nonsense 5/20 - 1
10-43601937-G-A c.981G>A p.Q327= Synonymous 5/20 - 1
10-43601939-C-A c.983C>A p.T328N Missense 5/20 - 1
10-43601941-T-C c.985T>C p.F329L Missense 5/20 - 1
10-43601943-C-A c.987C>A p.F329L Missense 5/20 - 1
10-43601943-C-G c.987C>G p.F329L Missense 5/20 - 1
10-43601944-C-G c.988C>G p.R330G Missense 5/20 - 1
10-43601944-C-T c.988C>T p.R330W Missense 5/20 - 2
10-43601945-G-A c.989G>A p.R330Q Missense 5/20 - 3
10-43601948-T-A c.992T>A p.V331E Missense 5/20 - 1
10-43601953-CA-TG c.997_998inv p.H333C Missense 5/20 - 1
10-43601965-G-A c.1009G>A p.E337K Missense 5/20 - 1
10-43601969-CC-TG c.1013_1014delinsTG p.T338M Missense 5/20 - 2
10-43601969-C-T c.1013C>T p.T338I Missense 5/20 - 5
10-43601970-C-G c.1014C>G p.T338= Synonymous 5/20 - 1
10-43601981-C-G c.1025C>G p.A342G Missense 5/20 - 1
10-43601987-G-C c.1031G>C p.G344A Missense 5/20 - 1
10-43601995-G-C c.1039G>C p.V347L Missense 5/20 - 1
10-43601995-G-T c.1039G>T p.V347L Missense 5/20 - 1
10-43601998-C-T c.1042C>T p.R348W Missense 5/20 - 1
10-43601999-G-A c.1043G>A p.R348Q Missense 5/20 - 1
10-43602001-G-C c.1045G>C p.A349P Missense 5/20 - 1
10-43602002-C-T c.1046C>T p.A349V Missense 5/20 - 2
10-43602004-GA-G c.1048del p.T350Pfs*63 Frameshift 5/20 - 1
10-43602007-G-A c.1051G>A p.V351I Missense 5/20 - 3
10-43602010-ACATG-A c.1054_1057del p.H352Tfs*60 Frameshift 5/20 - 1
10-43602010-C-T c.1054C>T p.H352Y Missense 5/20 - 1
10-43602013-G-A c.1057G>A p.D353N Missense 5/20 - 1
10-43602014-A-G c.1058A>G p.D353G Missense 5/20 - 1
10-43602028-G-A c.1063+9G>A - IntronicSNV - 5/19 2
10-43602066-G-A c.1063+47G>A - IntronicSNV - 5/19 1
10-43602072-C-T c.1063+53C>T - IntronicSNV - 5/19 1
10-43603012-C-G c.1063+993C>G - IntronicSNV - 5/19 2
10-43603012-C-T c.1063+993C>T - IntronicSNV - 5/19 2
10-43603040-C-CACAA c.1063+1024_1063+1025insAACA - IntronicInsertion - 5/19 1
10-43603462-G-A c.1064-1017G>A - IntronicSNV - 5/19 1
10-43603919-G-A c.1064-560G>A - IntronicSNV - 5/19 1
10-43604148-A-C c.1064-331A>C - IntronicSNV - 5/19 1
10-43604390-A-T c.1064-89A>T - IntronicSNV - 5/19 1
10-43604465-G-T c.1064-14G>T - IntronicSNV - 5/19 1
10-43604479-G-A c.1064G>A p.R355K Missense 6/20 - 1
10-43604491-A-C c.1076A>C p.N359T Missense 6/20 - 1
10-43604492-C-A c.1077C>A p.N359K Missense 6/20 - 1
10-43604492-C-G c.1077C>G p.N359K Missense 6/20 - 1
10-43604493-C-T c.1078C>T p.R360W Missense 6/20 - 4
10-43604498-C-A c.1083C>A p.N361K Missense 6/20 - 1
10-43604498-C-G c.1083C>G p.N361K Missense 6/20 - 1
10-43604499-C-A c.1084C>A p.L362I Missense 6/20 - 1
10-43604511-G-T c.1096G>T p.E366* Nonsense 6/20 - 1
10-43604518-G-A c.1103G>A p.R368H Missense 6/20 - 1
10-43604524-T-C c.1109T>C p.M370T Missense 6/20 - 1
10-43604533-C-T c.1118C>T p.A373V Missense 6/20 - 4
10-43604535-G-C c.1120G>C p.V374L Missense 6/20 - 1
10-43604535-G-T c.1120G>T p.V374L Missense 6/20 - 1
10-43604542-T-C c.1127T>C p.V376A Missense 6/20 - 1
10-43604553-G-T c.1138G>T p.D380Y Missense 6/20 - 1
10-43604566-C-G c.1151C>G p.P384R Missense 6/20 - 1
10-43604571-G-A c.1156G>A p.A386T Missense 6/20 - 1
10-43604572-C-T c.1157C>T p.A386V Missense 6/20 - 1
10-43604577-G-A c.1162G>A p.V388I Missense 6/20 - 1
10-43604580-C-T c.1165C>T p.L389F Missense 6/20 - 1
10-43604583-TT-GG c.1168_1169delinsGG p.L390G Missense 6/20 - 1
10-43604593-T-A c.1178T>A p.F393Y Missense 6/20 - 1
10-43604597-C-A c.1182C>A p.N394K Missense 6/20 - 1
10-43604597-C-G c.1182C>G p.N394K Missense 6/20 - 1
10-43604602-C-T c.1187C>T p.S396L Missense 6/20 - 1
10-43604604-G-A c.1189G>A p.V397M Missense 6/20 - 1
10-43604608-T-C c.1193T>C p.L398P Missense 6/20 - 1
10-43604611-C-G c.1196C>G p.P399R Missense 6/20 - 1
10-43604611-C-T c.1196C>T p.P399L Missense 6/20 - 2
10-43604617-G-A c.1202G>A p.S401N Missense 6/20 - 1
10-43604619-CTG-TGT c.1204_1206delinsTGT p.L402C Missense 6/20 - 1
10-43604626-T-C c.1211T>C p.L404P Missense 6/20 - 1
10-43604626-T-TG c.1212dup p.P405Afs*65 Frameshift 6/20 - 1
10-43604640-T-A c.1225T>A p.S409T Missense 6/20 - 1
10-43604641-C-A c.1226C>A p.S409Y Missense 6/20 - 2
10-43604643-C-A c.1228C>A p.L410I Missense 6/20 - 1
10-43604643-C-G c.1228C>G p.L410V Missense 6/20 - 1
10-43604646-T-A c.1231T>A p.S411T Missense 6/20 - 1
10-43604649-G-A c.1234G>A p.V412M Missense 6/20 - 1
10-43604650-T-A c.1235T>A p.V412E Missense 6/20 - 1
10-43604653-G-C c.1238G>C p.S413T Missense 6/20 - 1
10-43604664-C-T c.1249C>T p.R417C Missense 6/20 - 1
10-43604665-G-A c.1250G>A p.R417H Missense 6/20 - 2
10-43604665-GC-AA c.1250_1251delinsAA p.R417Q Missense 6/20 - 2
10-43604667-C-T c.1252C>T p.R418* Nonsense 6/20 - 1
10-43604668-G-A c.1253G>A p.R418Q Missense 6/20 - 2
10-43604668-G-T c.1253G>T p.R418L Missense 6/20 - 1
10-43604676-C-A c.1261C>A p.Q421K Missense 6/20 - 1
10-43604676-C-T c.1261C>T p.Q421* Nonsense 6/20 - 1
10-43604677-A-C c.1262A>C p.Q421P Missense 6/20 - 1
10-43604683-G-A c.1263+5G>A - IntronicSNV - 6/19 1
10-43604692-T-C c.1263+14T>C - IntronicSNV - 6/19 1
10-43604950-A-G c.1263+272A>G - IntronicSNV - 6/19 1
10-43605392-G-A c.1263+714G>A - IntronicSNV - 6/19 1
10-43605392-G-C c.1263+714G>C - IntronicSNV - 6/19 1
10-43605860-T-A c.1264-795T>A - IntronicSNV - 6/19 1
10-43605860-T-G c.1264-795T>G - IntronicSNV - 6/19 1
10-43606650-C-G c.1264-5C>G - IntronicSNV - 6/19 3
10-43606650-C-T c.1264-5C>T - IntronicSNV - 6/19 3
10-43606655-A-G c.1264A>G p.I422V Missense 7/20 - 1
10-43606658-G-A c.1267G>A p.G423R Missense 7/20 - 2
10-43606674-A-G c.1283A>G p.E428G Missense 7/20 - 1
10-43606679-TG-AC c.1288_1289delinsAC p.C430T Missense 7/20 - 1
10-43606686-CA-AG c.1295_1296delinsAG p.A432E Missense 7/20 - 1
10-43606686-C-T c.1295C>T p.A432V Missense 7/20 - 1
10-43606687-A-G c.1296A>G p.A432= Synonymous 7/20 - 24
10-43606687-A-T c.1296A>T p.A432= Synonymous 7/20 - 18
10-43606687-CA-C c.1296del p.F433Sfs*20 Frameshift 7/20 - 1
10-43606694-G-C c.1303G>C p.G435R Missense 7/20 - 1
10-43606695-G-T c.1304G>T p.G435V Missense 7/20 - 1
10-43606697-A-G c.1306A>G p.I436V Missense 7/20 - 1
10-43606702-C-G c.1311C>G p.N437K Missense 7/20 - 1
10-43606702-C-T c.1311C>T p.N437= Synonymous 7/20 - 1
10-43606703-G-A c.1312G>A p.V438I Missense 7/20 - 1
10-43606707-A-G c.1316A>G p.Q439R Missense 7/20 - 1
10-43606712-A-C c.1321A>C p.K441Q Missense 7/20 - 1
10-43606716-T-C c.1325T>C p.L442P Missense 7/20 - 1
10-43606725-C-T c.1334C>T p.S445F Missense 7/20 - 1
10-43606727-G-C c.1336G>C p.G446R Missense 7/20 - 2
10-43606740-G-A c.1349G>A p.S450N Missense 7/20 - 1
10-43606743-C-T c.1352C>T p.T451M Missense 7/20 - 3
10-43606745-C-A c.1354C>A p.L452I Missense 7/20 - 1
10-43606749-G-A c.1358G>A p.G453E Missense 7/20 - 1
10-43606749-G-T c.1358G>T p.G453V Missense 7/20 - 1
10-43606754-G-A c.1363G>A p.V455I Missense 7/20 - 2
10-43606761-C-A c.1370C>A p.S457* Nonsense 7/20 - 1
10-43606761-C-T c.1370C>T p.S457L Missense 7/20 - 1
10-43606766-G-A c.1375G>A p.E459K Missense 7/20 - 3
10-43606769-G-A c.1378G>A p.D460N Missense 7/20 - 2
10-43606773-C-T c.1382C>T p.T461I Missense 7/20 - 1
10-43606777-G-A c.1386G>A p.S462= Synonymous 7/20 - 1
10-43606778-G-A c.1387G>A p.G463R Missense 7/20 - 3
10-43606778-G-C c.1387G>C p.G463R Missense 7/20 - 2
10-43606781-A-G c.1390A>G p.I464V Missense 7/20 - 1
10-43606781-AT-GC c.1390_1391delinsGC p.I464A Missense 7/20 - 1
10-43606784-C-A c.1393C>A p.L465M Missense 7/20 - 1
10-43606784-C-T c.1393C>T p.L465= Synonymous 7/20 - 2
10-43606786-G-A c.1395G>A p.L465= Synonymous 7/20 - 1
10-43606786-G-C c.1395G>C p.L465= Synonymous 7/20 - 1
10-43606786-G-T c.1395G>T p.L465= Synonymous 7/20 - 1
10-43606791-T-C c.1400T>C p.V467A Missense 7/20 - 1
10-43606808-C-T c.1417C>T p.L473= Synonymous 7/20 - 1
10-43606809-T-A c.1418T>A p.L473Q Missense 7/20 - 1
10-43606812-G-A c.1421G>A p.R474Q Missense 7/20 - 1
10-43606814-C-T c.1423C>T p.R475W Missense 7/20 - 3
10-43606815-G-A c.1424G>A p.R475Q Missense 7/20 - 2
10-43606817-C-A c.1426C>A p.P476T Missense 7/20 - 1
10-43606817-C-T c.1426C>T p.P476S Missense 7/20 - 1
10-43606818-C-T c.1427C>T p.P476L Missense 7/20 - 1
10-43606821-A-C c.1430A>C p.K477T Missense 7/20 - 1
10-43606824-G-T c.1433G>T p.C478F Missense 7/20 - 1
10-43606826-GC-TG c.1435_1436delinsTG p.A479C Missense 7/20 - 1
10-43606828-C-A c.1437C>A p.A479= Synonymous 7/20 - 1
10-43606829-CGAA-C c.1438_1440del p.E480del InFrameDeletion 7/20 - 1
10-43606829-G-A c.1438G>A p.E480K Missense 7/20 - 2
10-43606829-G-T c.1438G>T p.E480* Nonsense 7/20 - 1
10-43606832-C-G c.1441C>G p.L481V Missense 7/20 - 2
10-43606836-A-T c.1445A>T p.H482L Missense 7/20 - 1
10-43606839-A-T c.1448A>T p.Y483F Missense 7/20 - 1
10-43606844-G-C c.1453G>C p.V485L Missense 7/20 - 1
10-43606844-G-T c.1453G>T p.V485L Missense 7/20 - 1
10-43606847-G-A c.1456G>A p.V486M Missense 7/20 - 1
10-43606850-G-A c.1459G>A p.A487T Missense 7/20 - 1
10-43606851-C-T c.1460C>T p.A487V Missense 7/20 - 1
10-43606853-A-T c.1462A>T p.T488S Missense 7/20 - 1
10-43606854-C-G c.1463C>G p.T488S Missense 7/20 - 1
10-43606856-G-A c.1465G>A p.D489N Missense 7/20 - 15
10-43606866-C-T c.1475C>T p.T492I Missense 7/20 - 1
10-43606869-C-T c.1478C>T p.S493F Missense 7/20 - 1
10-43606870-T-A c.1479T>A p.S493= Synonymous 7/20 - 1
10-43606870-T-C c.1479T>C p.S493= Synonymous 7/20 - 1
10-43606870-T-G c.1479T>G p.S493= Synonymous 7/20 - 1
10-43606872-G-T c.1481G>T p.R494M Missense 7/20 - 1
10-43606877-G-T c.1486G>T p.A496S Missense 7/20 - 1
10-43606879-C-T c.1488C>T p.A496= Synonymous 7/20 - 1
10-43606880-C-T c.1489C>T p.Q497* Nonsense 7/20 - 1
10-43606886-C-T c.1495C>T p.Q499* Nonsense 7/20 - 1
10-43606899-C-T c.1508C>T p.T503I Missense 7/20 - 1
10-43606903-G-A c.1512G>A p.V504= Synonymous 7/20 - 1
10-43606902-TGGAGGG-T c.1513_1518del p.E505_G506del InFrameDeletion 7/20 - 1
10-43606909-G-T c.1518G>T p.G506= Synonymous 7/20 - 1
10-43606971-C-A c.1522+58C>A - IntronicSNV - 7/19 1
10-43607548-TGTGGCCGAG-T c.1526_1534del p.V509_E511del InFrameDeletion 8/20 - 1
10-43607552-G-A c.1528G>A p.A510T Missense 8/20 - 1
10-43607553-C-T c.1529C>T p.A510V Missense 8/20 - 1
10-43607554-C-A c.1530C>A p.A510= Synonymous 8/20 - 1
10-43607554-C-G c.1530C>G p.A510= Synonymous 8/20 - 1
10-43607554-C-T c.1530C>T p.A510= Synonymous 8/20 - 1
10-43607555-G-A c.1531G>A p.E511K Missense 8/20 - 9
10-43607562-C-G c.1538C>G p.A513G Missense 8/20 - 7
10-43607562-C-T c.1538C>T p.A513V Missense 8/20 - 1
10-43607562-CG-C c.1541del p.G514Afs*124 Frameshift 8/20 - 1
10-43607567-T-A c.1543T>A p.C515S Missense 8/20 - 6
10-43607568-G-C c.1544G>C p.C515S Missense 8/20 - 6
10-43607569-C-G c.1545C>G p.C515W Missense 8/20 - 1
10-43607570-C-T c.1546C>T p.P516S Missense 8/20 - 1
10-43607571-C-A c.1547C>A p.P516H Missense 8/20 - 1
10-43607576-T-C c.1552T>C p.S518P Missense 8/20 - 1
10-43607580-G-A c.1556G>A p.C519Y Missense 8/20 - 1
10-43607581-T-G c.1557T>G p.C519W Missense 8/20 - 1
10-43607595-G-A c.1571G>A p.R524K Missense 8/20 - 1
10-43607597-C-G c.1573C>G p.R525G Missense 8/20 - 1
10-43607597-C-T c.1573C>T p.R525W Missense 8/20 - 6
10-43607598-G-A c.1574G>A p.R525Q Missense 8/20 - 1
10-43607600-C-G c.1576C>G p.L526V Missense 8/20 - 1
10-43607600-CT-TC c.1576_1577delinsTC p.L526S Missense 8/20 - 1
10-43607603-G-A c.1579G>A p.E527K Missense 8/20 - 1
10-43607607-G-A c.1583G>A p.C528Y Missense 8/20 - 1
10-43607612-G-A c.1588G>A p.E530K Missense 8/20 - 1
10-43607615-T-C c.1591T>C p.C531R Missense 8/20 - 3
10-43607619-G-A c.1595G>A p.G532D Missense 8/20 - 1
10-43607620-C-A c.1596C>A p.G532= Synonymous 8/20 - 1
10-43607620-C-G c.1596C>G p.G532= Synonymous 8/20 - 1
10-43607620-C-T c.1596C>T p.G532= Synonymous 8/20 - 1
10-43607621-G-A c.1597G>A p.G533S Missense 8/20 - 4
10-43607621-G-T c.1597G>T p.G533C Missense 8/20 - 37
10-43607622-G-A c.1598G>A p.G533D Missense 8/20 - 1
10-43607622-G-T c.1598G>T p.G533V Missense 8/20 - 1
10-43607642-A-G c.1618A>G p.R540G Missense 8/20 - 1
10-43607648-G-A c.1624G>A p.E542K Missense 8/20 - 8
10-43607649-GA-G c.1625del p.E542Gfs*96 Frameshift 8/20 - 1
10-43607651-T-A c.1627T>A p.W543R Missense 8/20 - 2
10-43607651-T-C c.1627T>C p.W543R Missense 8/20 - 1
10-43607652-G-A c.1628G>A p.W543* Nonsense 8/20 - 1
10-43607653-G-A c.1629G>A p.W543* Nonsense 8/20 - 1
10-43607657-CA-GC c.1633_1634delinsGC p.Q545A Missense 8/20 - 1
10-43607657-C-T c.1633C>T p.Q545* Nonsense 8/20 - 1
10-43607660-GG-AA c.1636_1637delinsAA p.G546K Missense 8/20 - 1
10-43607661-G-C c.1637G>C p.G546A Missense 8/20 - 1
10-43607666-G-A c.1642G>A p.G548S Missense 8/20 - 3
10-43607667-G-T c.1643G>T p.G548V Missense 8/20 - 2
10-43607756-G-A c.1648+84G>A - IntronicSNV - 8/19 5
10-43607760-GC-G c.1648+88del - IntronicDeletion - 8/19 1
10-43608303-A-T c.1651A>T p.I551F Missense 9/20 - 1
10-43608306-AC-A c.1656del p.R553Gfs*85 Frameshift 9/20 - 1
10-43608314-C-A c.1662C>A p.N554K Missense 9/20 - 1
10-43608314-C-G c.1662C>G p.N554K Missense 9/20 - 1
10-43608321-ACC-TAA c.1669_1671delinsTAA p.T557* Nonsense 9/20 - 3
10-43608330-C-T c.1678C>T p.P560S Missense 9/20 - 1
10-43608336-A-T c.1684A>T p.T562S Missense 9/20 - 2
10-43608337-C-G c.1685C>G p.T562S Missense 9/20 - 1
10-43608337-C-T c.1685C>T p.T562I Missense 9/20 - 1
10-43608345-TG-AC c.1693_1694delinsAC p.C565T Missense 9/20 - 1
10-43608351-G-A c.1699G>A p.D567N Missense 9/20 - 4
10-43608351-GAC-CAA c.1699_1701delinsCAA p.D567Q Missense 9/20 - 1
10-43608352-GA-G c.1700del p.D567Afs*71 Frameshift 9/20 - 1
10-43608353-C-A c.1701C>A p.D567E Missense 9/20 - 1
10-43608354-G-C c.1702G>C p.G568R Missense 9/20 - 1
10-43608354-GGC-TGG c.1702_1704delinsTGG p.G568W Missense 9/20 - 1
10-43608362-C-A c.1710C>A p.C570* Nonsense 9/20 - 2
10-43608363-G-A c.1711G>A p.D571N Missense 9/20 - 1
10-43608367-T-C c.1715T>C p.V572A Missense 9/20 - 1
10-43608381-G-T c.1729G>T p.D577Y Missense 9/20 - 1
10-43608384-A-G c.1732A>G p.I578V Missense 9/20 - 1
10-43608385-T-G c.1733T>G p.I578S Missense 9/20 - 1
10-43608385-TCAA-T c.1736_1738del p.N579del InFrameDeletion 9/20 - 1
10-43608389-C-A c.1737C>A p.N579K Missense 9/20 - 1
10-43608389-C-G c.1737C>G p.N579K Missense 9/20 - 1
10-43608397-C-T c.1745C>T p.P582L Missense 9/20 - 1
10-43608402-G-A c.1750G>A p.D584N Missense 9/20 - 1
10-43608408-C-T c.1756C>T p.L586F Missense 9/20 - 2
10-43608411-C-A c.1759C>A p.R587= Synonymous 9/20 - 1
10-43608412-G-A c.1759+1G>A - IntronicSNV - 9/19 1
10-43608522-G-C c.1759+111G>C - IntronicSNV - 9/19 1
10-43608653-G-A c.1759+242G>A - IntronicSNV - 9/19 1
10-43608864-C-G c.1760-140C>G - IntronicSNV - 9/19 2
10-43608967-C-T c.1760-37C>T - IntronicSNV - 9/19 1
10-43608971-C-T c.1760-33C>T - IntronicSNV - 9/19 1
10-43609005-G-A c.1761G>A p.R587= Synonymous 10/20 - 1
10-43609002-AG-A c.1763del p.G588Afs*50 Frameshift 10/20 - 2
10-43609015-G-T c.1771G>T p.V591F Missense 10/20 - 1
10-43609019-G-A c.1775G>A p.G592E Missense 10/20 - 2
10-43609020-G-A c.1776G>A p.G592= Synonymous 10/20 - 1
10-43609021-GGA-TGT c.1777_1779delinsTGT p.G593C Missense 10/20 - 1
10-43609021-G-T c.1777G>T p.G593* Nonsense 10/20 - 2
10-43609022-G-A c.1778G>A p.G593E Missense 10/20 - 3
10-43609027-G-A c.1783G>A p.E595K Missense 10/20 - 1
10-43609028-A-G c.1784A>G p.E595G Missense 10/20 - 1
10-43609030-C-A c.1786C>A p.P596T Missense 10/20 - 1
10-43609031-C-T c.1787C>T p.P596L Missense 10/20 - 1
10-43609032-T-A c.1788T>A p.P596= Synonymous 10/20 - 1
10-43609032-T-C c.1788T>C p.P596= Synonymous 10/20 - 1
10-43609032-T-G c.1788T>G p.P596= Synonymous 10/20 - 1
10-43609043-G-A c.1799G>A p.R600Q Missense 10/20 - 7
10-43609043-G-T c.1799G>T p.R600L Missense 10/20 - 1
10-43609046-G-A c.1802G>A p.G601E Missense 10/20 - 1
10-43609048-A-G c.1804A>G p.I602V Missense 10/20 - 1
10-43609051-A-C c.1807A>C p.K603Q Missense 10/20 - 4
10-43609051-A-G c.1807A>G p.K603E Missense 10/20 - 3
10-43609054-G-T c.1810G>T p.A604S Missense 10/20 - 1
10-43609058-G-A c.1814G>A p.G605D Missense 10/20 - 1
10-43609061-A-G c.1817A>G p.Y606C Missense 10/20 - 6
10-43609069-T-A c.1825T>A p.C609S Missense 10/20 - 2
10-43609069-T-C c.1825T>C p.C609R Missense 10/20 - 12
10-43609069-T-G c.1825T>G p.C609G Missense 10/20 - 3
10-43609069-TG-AC c.1825_1826delinsAC p.C609T Missense 10/20 - 2
10-43609070-G-C c.1826G>C p.C609S Missense 10/20 - 12
10-43609070-G-A c.1826G>A p.C609Y Missense 10/20 - 22
10-43609070-G-T c.1826G>T p.C609F Missense 10/20 - 12
10-43609071-C-A c.1827C>A p.C609* Nonsense 10/20 - 1
10-43609071-C-G c.1827C>G p.C609W Missense 10/20 - 2
10-43609071-C-T c.1827C>T p.C609= Synonymous 10/20 - 1
10-43609073-A-G c.1829A>G p.N610S Missense 10/20 - 1
10-43609075-T-A c.1831T>A p.C611S Missense 10/20 - 4
10-43609075-T-C c.1831T>C p.C611R Missense 10/20 - 14
10-43609075-T-G c.1831T>G p.C611G Missense 10/20 - 3
10-43609075-TGC-AAG c.1831_1833delinsAAG p.C611K Missense 10/20 - 1
10-43609076-G-C c.1832G>C p.C611S Missense 10/20 - 5
10-43609076-G-A c.1832G>A p.C611Y Missense 10/20 - 29
10-43609076-G-T c.1832G>T p.C611F Missense 10/20 - 15
10-43609077-C-A c.1833C>A p.C611* Nonsense 10/20 - 1
10-43609077-C-G c.1833C>G p.C611W Missense 10/20 - 9
10-43609078-T-C c.1834T>C p.F612L Missense 10/20 - 1
10-43609081-C-T c.1837C>T p.P613S Missense 10/20 - 1
10-43609083-T-C c.1839T>C p.P613= Synonymous 10/20 - 1
10-43609086-G-GT c.1842_1843insT p.E615* Nonsense 10/20 - 1
10-43609083-TGAG-T c.1846_1848del p.E616del InFrameDeletion 10/20 - 3
10-43609090-G-C c.1846G>C p.E616Q Missense 10/20 - 1
10-43609096-T-A c.1852T>A p.C618S Missense 10/20 - 32
10-43609096-T-C c.1852T>C p.C618R Missense 10/20 - 44
10-43609096-T-G c.1852T>G p.C618G Missense 10/20 - 14
10-43609097-G-C c.1853G>C p.C618S Missense 10/20 - 35
10-43609097-G-A c.1853G>A p.C618Y Missense 10/20 - 20
10-43609097-G-T c.1853G>T p.C618F Missense 10/20 - 28
10-43609098-C-A c.1854C>A p.C618* Nonsense 10/20 - 2
10-43609098-C-G c.1854C>G p.C618W Missense 10/20 - 1
10-43609100-TCTG-T c.1858_1860del p.C620del InFrameDeletion 10/20 - 1
10-43609102-T-A c.1858T>A p.C620S Missense 10/20 - 14
10-43609102-T-C c.1858T>C p.C620R Missense 10/20 - 59
10-43609102-T-G c.1858T>G p.C620G Missense 10/20 - 5
10-43609102-TG-CT c.1858_1859delinsCT p.C620L Missense 10/20 - 1
10-43609102-TG-GC c.1858_1859delinsGC p.C620A Missense 10/20 - 1
10-43609103-G-A c.1859G>A p.C620Y Missense 10/20 - 6
10-43609103-G-C c.1859G>C p.C620S Missense 10/20 - 9
10-43609103-G-T c.1859G>T p.C620F Missense 10/20 - 18
10-43609104-C-A c.1860C>A p.C620* Nonsense 10/20 - 1
10-43609104-C-G c.1860C>G p.C620W Missense 10/20 - 7
10-43609104-C-T c.1860C>T p.C620= Synonymous 10/20 - 1
10-43609110-C-T c.1866C>T p.P622= Synonymous 10/20 - 1
10-43609111-G-A c.1867G>A p.E623K Missense 10/20 - 2
10-43609112-A-G c.1868A>G p.E623G Missense 10/20 - 1
10-43609124-G-A c.1879+1G>A - IntronicSNV - 10/19 2
10-43609125-T-C c.1879+2T>C - IntronicSNV - 10/19 1
10-43609133-T-C c.1879+10T>C - IntronicSNV - 10/19 1
10-43609150-A-G c.1879+27A>G - IntronicSNV - 10/19 1
10-43609143-GACC-G c.1879+30_1879+32del - IntronicDeletion - 10/19 1
10-43609155-C-T c.1879+32C>T - IntronicSNV - 10/19 1
10-43609178-A-G c.1879+55A>G - IntronicSNV - 10/19 1
10-43609180-A-G c.1879+57A>G - IntronicSNV - 10/19 1
10-43609928-A-G c.1880A>G p.D627G Missense 11/20 - 1
10-43609928-GATCCACTGTGCGA-G c.1880_1892del p.D627Afs*7 SpliceAcceptorDeletion 11/20 - 1
10-43609929-AT-A c.1881del p.P628Hfs*10 Frameshift 11/20 - 1
10-43609930-C-T c.1882C>T p.P628S Missense 11/20 - 1
10-43609929-T-TC c.1883dup p.L629Tfs*45 SpliceAcceptorInsertion 11/20 - 1
10-43609933-ACTGTGCGACGAGCTG-A c.1885_1899del p.L629_L633del InFrameDeletion 11/20 - 1
10-43609934-CTGTGCG-C c.1886_1891del p.L629_D631delinsH MultiAAMissense 11/20 - 2
10-43609934-T-C c.1886T>C p.L629P Missense 11/20 - 1
10-43609936-T-A c.1888T>A p.C630S Missense 11/20 - 4
10-43609936-T-C c.1888T>C p.C630R Missense 11/20 - 30
10-43609936-T-G c.1888T>G p.C630G Missense 11/20 - 2
10-43609937-G-C c.1889G>C p.C630S Missense 11/20 - 4
10-43609937-G-A c.1889G>A p.C630Y Missense 11/20 - 7
10-43609937-G-T c.1889G>T p.C630F Missense 11/20 - 1
10-43609938-C-G c.1890C>G p.C630W Missense 11/20 - 1
10-43609938-C-T c.1890C>T p.C630= Synonymous 11/20 - 1
10-43609939-G-A c.1891G>A p.D631N Missense 11/20 - 1
10-43609939-GA-AC c.1891_1892delinsAC p.D631T Missense 11/20 - 1
10-43609939-G-T c.1891G>T p.D631Y Missense 11/20 - 28
10-43609940-A-G c.1892A>G p.D631G Missense 11/20 - 2
10-43609940-A-T c.1892A>T p.D631V Missense 11/20 - 3
10-43609941-ACGAGCT-A c.1893_1898del p.D631_L633delinsE MultiAAMissense 11/20 - 4
10-43609941-C-A c.1893C>A p.D631E Missense 11/20 - 2
10-43609941-C-G c.1893C>G p.D631E Missense 11/20 - 2
10-43609941-CGAGCTG-A c.1893_1899delinsA p.D631_L633delinsE MultiAAMissense 11/20 - 1
10-43609941-C-T c.1893C>T p.D631= Synonymous 11/20 - 2
10-43609940-ACGAGCTGTG-A c.1894_1902del p.E632_C634del InFrameDeletion 11/20 - 1
10-43609942-CGAGCTG-C c.1894_1899del p.E632_L633del InFrameDeletion 11/20 - 5
10-43609942-CGAGCTGTGCCG-C c.1894_1904del p.E632Hfs*38 Frameshift 11/20 - 1
10-43609942-G-A c.1894G>A p.E632K Missense 11/20 - 5
10-43609942-G-T c.1894G>T p.E632* Nonsense 11/20 - 1
10-43609943-AG-GTCTTTGT c.1895_1896delinsGTCTTTGT p.E632delinsGLC MultiAAMissense 11/20 - 2
10-43609940-ACGAGCTGTGCCGCACGGTGAT-A c.1895_1915del p.E632_I638del InFrameDeletion 11/20 - 1
10-43609943-A-G c.1895A>G p.E632G Missense 11/20 - 1
10-43609943-GAGCTGT-G c.1895_1900del p.E632_C634delinsG MultiAAMissense 11/20 - 1
10-43609943-AGCT-A c.1897_1899del p.L633del InFrameDeletion 11/20 - 9
10-43609945-C-G c.1897C>G p.L633V Missense 11/20 - 1
10-43609946-T-C c.1898T>C p.L633P Missense 11/20 - 1
10-43609946-T-TGTGCCGCAC c.1900_1908dup p.C634_T636dup InFrameInsertion 11/20 - 3
10-43609948-GTGC-G c.1900_1902del p.C634del InFrameDeletion 11/20 - 1
10-43609948-T-A c.1900T>A p.C634S Missense 11/20 - 27
10-43609948-T-C c.1900T>C p.C634R Missense 11/20 - 199
10-43609948-T-G c.1900T>G p.C634G Missense 11/20 - 29
10-43609948-TGC-AAG c.1900_1902delinsAAG p.C634K Missense 11/20 - 2
10-43609948-TG-CT c.1900_1901delinsCT p.C634L Missense 11/20 - 1
10-43609948-TG-GC c.1900_1901delinsGC p.C634A Missense 11/20 - 3
10-43609949-G-C c.1901G>C p.C634S Missense 11/20 - 23
10-43609949-G-A c.1901G>A p.C634Y Missense 11/20 - 127
10-43609949-G-T c.1901G>T p.C634F Missense 11/20 - 44
10-43609950-C-A c.1902C>A p.C634* Nonsense 11/20 - 4
10-43609950-C-G c.1902C>G p.C634W Missense 11/20 - 113
10-43609950-C-T c.1902C>T p.C634= Synonymous 11/20 - 1
10-43609950-C-CCCTAAG c.1903_1904insCTAAGC p.C634_R635insPK InFrameInsertion 11/20 - 1
10-43609951-C-G c.1903C>G p.R635G Missense 11/20 - 1
10-43609951-C-T c.1903C>T p.R635C Missense 11/20 - 2
10-43609952-G-A c.1904G>A p.R635H Missense 11/20 - 2
10-43609952-G-T c.1904G>T p.R635L Missense 11/20 - 1
10-43609954-A-C c.1906A>C p.T636P Missense 11/20 - 4
10-43609954-ACGGTG-TGTAGGACA c.1906_1911delinsTGTAGGACA p.T636_V637delinsCRT MultiAAMissense 11/20 - 1
10-43609954-A-G c.1906A>G p.T636A Missense 11/20 - 1
10-43609954-CACG-C c.1906_1908del p.T636del InFrameDeletion 11/20 - 1
10-43609955-C-T c.1907C>T p.T636M Missense 11/20 - 5
10-43609954-A-ACGTGC c.1908_1909insTGCCG p.V637Cfs*3 Frameshift 11/20 - 1
10-43609956-G-A c.1908G>A p.T636= Synonymous 11/20 - 1
10-43609956-G-C c.1908G>C p.T636= Synonymous 11/20 - 1
10-43609956-G-T c.1908G>T p.T636= Synonymous 11/20 - 1
10-43609958-T-C c.1910T>C p.V637A Missense 11/20 - 1
10-43609958-TGATCGCA-T c.1912_1918del p.I638Pfs*35 Frameshift 11/20 - 1
10-43609960-A-G c.1912A>G p.I638V Missense 11/20 - 1
10-43609962-C-G c.1914C>G p.I638M Missense 11/20 - 1
10-43609962-TC-T c.1914del p.I638Mfs*37 Frameshift 11/20 - 1
10-43609963-G-A c.1915G>A p.A639T Missense 11/20 - 2
10-43609962-CGCA-C c.1917_1919del p.A641del InFrameDeletion 11/20 - 1
10-43609967-C-G c.1919C>G p.A640G Missense 11/20 - 5
10-43609968-C-A c.1920C>A p.A640= Synonymous 11/20 - 1
10-43609968-C-G c.1920C>G p.A640= Synonymous 11/20 - 1
10-43609968-C-T c.1920C>T p.A640= Synonymous 11/20 - 1
10-43609969-G-A c.1921G>A p.A641T Missense 11/20 - 2
10-43609969-G-T c.1921G>T p.A641S Missense 11/20 - 2
10-43609970-C-A c.1922C>A p.A641D Missense 11/20 - 1
10-43609971-T-C c.1923T>C p.A641= Synonymous 11/20 - 1
10-43609972-G-T c.1924G>T p.V642F Missense 11/20 - 1
10-43609973-T-C c.1925T>C p.V642A Missense 11/20 - 1
10-43609974-C-G c.1926C>G p.V642= Synonymous 11/20 - 1
10-43609979-T-C c.1931T>C p.F644S Missense 11/20 - 1
10-43609988-AT-A c.1940del p.I647Tfs*28 Frameshift 11/20 - 1
10-43609989-C-A c.1941C>A p.I647= Synonymous 11/20 - 1
10-43609989-C-T c.1941C>T p.I647= Synonymous 11/20 - 2
10-43609990-G-A c.1942G>A p.V648I Missense 11/20 - 11
10-43609994-C-T c.1946C>T p.S649L Missense 11/20 - 25
10-43609995-G-A c.1947G>A p.S649= Synonymous 11/20 - 3
10-43609995-G-C c.1947G>C p.S649= Synonymous 11/20 - 2
10-43609995-G-T c.1947G>T p.S649= Synonymous 11/20 - 2
10-43609997-T-C c.1949T>C p.V650A Missense 11/20 - 1
10-43609999-C-A c.1951C>A p.L651M Missense 11/20 - 1
10-43610000-T-C c.1952T>C p.L651P Missense 11/20 - 1
10-43609999-C-T c.1951C>T p.L651= Synonymous 11/20 - 1
10-43610001-G-A c.1953G>A p.L651= Synonymous 11/20 - 4
10-43610001-G-C c.1953G>C p.L651= Synonymous 11/20 - 1
10-43610001-G-T c.1953G>T p.L651= Synonymous 11/20 - 1
10-43610005-T-A c.1957T>A p.S653T Missense 11/20 - 1
10-43610006-C-G c.1958C>G p.S653C Missense 11/20 - 1
10-43610006-C-T c.1958C>T p.S653F Missense 11/20 - 1
10-43610011-T-C c.1963T>C p.F655L Missense 11/20 - 1
10-43610020-C-T c.1972C>T p.H658Y Missense 11/20 - 1
10-43610021-A-G c.1973A>G p.H658R Missense 11/20 - 1
10-43610029-C-T c.1981C>T p.H661Y Missense 11/20 - 1
10-43610033-A-T c.1985A>T p.K662M Missense 11/20 - 1
10-43610039-C-A c.1991C>A p.A664D Missense 11/20 - 5
10-43610043-C-A c.1995C>A p.H665Q Missense 11/20 - 1
10-43610043-C-G c.1995C>G p.H665Q Missense 11/20 - 1
10-43610044-A-C c.1996A>C p.K666Q Missense 11/20 - 1
10-43610044-A-G c.1996A>G p.K666E Missense 11/20 - 21
10-43610045-A-G c.1997A>G p.K666R Missense 11/20 - 1
10-43610045-A-T c.1997A>T p.K666M Missense 11/20 - 3
10-43610046-G-C c.1998G>C p.K666N Missense 11/20 - 3
10-43610046-G-T c.1998G>T p.K666N Missense 11/20 - 6
10-43610047-CCA-TAT c.1999_2001delinsTAT p.P667Y Missense 11/20 - 1
10-43610050-C-T c.2002C>T p.P668S Missense 11/20 - 1
10-43610053-A-G c.2005A>G p.I669V Missense 11/20 - 1
10-43610066-A-G c.2018A>G p.E673G Missense 11/20 - 1
10-43610067-G-A c.2019G>A p.E673= Synonymous 11/20 - 1
10-43610071-AC-GA c.2023_2024delinsGA p.T675D Missense 11/20 - 1
10-43610071-A-G c.2023A>G p.T675A Missense 11/20 - 2
10-43610078-G-A c.2030G>A p.R677Q Missense 11/20 - 1
10-43610079-G-A c.2031G>A p.R677= Synonymous 11/20 - 1
10-43610079-G-T c.2031G>T p.R677= Synonymous 11/20 - 1
10-43610085-C-T c.2037C>T p.P679= Synonymous 11/20 - 2
10-43610086-G-A c.2038G>A p.A680T Missense 11/20 - 2
10-43610089-C-G c.2041C>G p.Q681E Missense 11/20 - 2
10-43610091-G-C c.2043G>C p.Q681H Missense 11/20 - 1
10-43610099-C-A c.2051C>A p.P684Q Missense 11/20 - 1
10-43610101-G-A c.2053G>A p.V685I Missense 11/20 - 1
10-43610101-G-T c.2053G>T p.V685F Missense 11/20 - 1
10-43610102-T-A c.2054T>A p.V685D Missense 11/20 - 1
10-43610105-G-A c.2057G>A p.S686N Missense 11/20 - 1
10-43610106-C-A c.2058C>A p.S686R Missense 11/20 - 1
10-43610107-TAC-GAG c.2059_2061delinsGAG p.Y687E Missense 11/20 - 1
10-43610107-TA-GC c.2059_2060delinsGC p.Y687A Missense 11/20 - 1
10-43610108-A-T c.2060A>T p.Y687F Missense 11/20 - 3
10-43610111-C-T c.2063C>T p.S688F Missense 11/20 - 1
10-43610119-G-A c.2071G>A p.G691S Missense 11/20 - 123
10-43610119-G-C c.2071G>C p.G691R Missense 11/20 - 12
10-43610119-G-T c.2071G>T p.G691C Missense 11/20 - 12
10-43610123-C-A c.2075C>A p.A692D Missense 11/20 - 1
10-43610123-CC-AG c.2075_2076delinsAG p.A692E Missense 11/20 - 1
10-43610125-C-T c.2077C>T p.R693C Missense 11/20 - 3
10-43610126-G-A c.2078G>A p.R693H Missense 11/20 - 2
10-43610128-CG-GC c.2080_2081delinsGC p.R694A Missense 11/20 - 1
10-43610128-C-T c.2080C>T p.R694W Missense 11/20 - 1
10-43610129-G-A c.2081G>A p.R694Q Missense 11/20 - 4
10-43610131-C-T c.2083C>T p.P695S Missense 11/20 - 1
10-43610130-GC-G c.2085del p.S696Rfs*35 Frameshift 11/20 - 1
10-43610134-T-G c.2086T>G p.S696A Missense 11/20 - 1
10-43610139-G-A c.2091G>A p.L697= Synonymous 11/20 - 1
10-43610147-T-C c.2099T>C p.M700T Missense 11/20 - 2
10-43610149-G-A c.2101G>A p.E701K Missense 11/20 - 1
10-43610153-A-C c.2105A>C p.N702T Missense 11/20 - 1
10-43610153-A-G c.2105A>G p.N702S Missense 11/20 - 1
10-43610154-C-A c.2106C>A p.N702K Missense 11/20 - 1
10-43610154-C-G c.2106C>G p.N702K Missense 11/20 - 1
10-43610158-G-A c.2110G>A p.V704I Missense 11/20 - 1
10-43610158-G-T c.2110G>T p.V704F Missense 11/20 - 2
10-43610159-T-G c.2111T>G p.V704G Missense 11/20 - 1
10-43610164-G-A c.2116G>A p.V706M Missense 11/20 - 4
10-43610167-G-A c.2119G>A p.D707N Missense 11/20 - 7
10-43610169-T-A c.2121T>A p.D707E Missense 11/20 - 1
10-43610177-A-G c.2129A>G p.K710R Missense 11/20 - 1
10-43610178-G-C c.2130G>C p.K710N Missense 11/20 - 2
10-43610178-G-T c.2130G>T p.K710N Missense 11/20 - 2
10-43610181-C-G c.2133C>G p.I711M Missense 11/20 - 1
10-43610256-G-A c.2136+72G>A - IntronicSNV - 11/19 1
10-43610335-G-A c.2136+151G>A - IntronicSNV - 11/19 1
10-43610366-G-A c.2136+182G>A - IntronicSNV - 11/19 4
10-43610366-G-T c.2136+182G>T - IntronicSNV - 11/19 2
10-43610455-T-C c.2136+271T>C - IntronicSNV - 11/19 2
10-43610456-G-A c.2136+272G>A - IntronicSNV - 11/19 1
10-43610558-C-A c.2136+374C>A - IntronicSNV - 11/19 1
10-43610558-C-T c.2136+374C>T - IntronicSNV - 11/19 4
10-43610621-T-C c.2136+437T>C - IntronicSNV - 11/19 1
10-43610654-G-A c.2136+470G>A - IntronicSNV - 11/19 1
10-43610671-G-T c.2136+487G>T - IntronicSNV - 11/19 3
10-43610693-G-T c.2136+509G>T - IntronicSNV - 11/19 1
10-43610772-C-G c.2136+588C>G - IntronicSNV - 11/19 1
10-43610786-T-C c.2136+602T>C - IntronicSNV - 11/19 1
10-43610897-C-T c.2136+713C>T - IntronicSNV - 11/19 1
10-43611541-T-G c.2137-491T>G - IntronicSNV - 11/19 1
10-43611708-A-G c.2137-324A>G - IntronicSNV - 11/19 1
10-43611865-T-C c.2137-167T>C - IntronicSNV - 11/19 1
10-43612033-A-C c.2138A>C p.E713A Missense 12/20 - 1
10-43612038-C-G c.2143C>G p.P715A Missense 12/20 - 1
10-43612038-C-T c.2143C>T p.P715S Missense 12/20 - 1
10-43612043-G-C c.2148G>C p.K716N Missense 12/20 - 1
10-43612043-G-T c.2148G>T p.K716N Missense 12/20 - 1
10-43612044-TG-GC c.2149_2150delinsGC p.W717A Missense 12/20 - 1
10-43612045-GG-TT c.2150_2151delinsTT p.W717F Missense 12/20 - 1
10-43612052-C-G c.2157C>G p.F719L Missense 12/20 - 1
10-43612056-C-T c.2161C>T p.R721W Missense 12/20 - 3
10-43612057-G-A c.2162G>A p.R721Q Missense 12/20 - 1
10-43612057-G-C c.2162G>C p.R721P Missense 12/20 - 1
10-43612061-G-A c.2166G>A p.K722= Synonymous 12/20 - 1
10-43612067-G-C c.2172G>C p.L724F Missense 12/20 - 1
10-43612067-G-T c.2172G>T p.L724F Missense 12/20 - 1
10-43612068-G-A c.2173G>A p.V725I Missense 12/20 - 1
10-43612075-G-C c.2180G>C p.G727A Missense 12/20 - 1
10-43612074-GGAAAAACTCTA-G c.2181_2191del p.K728Rfs*37 Frameshift 12/20 - 1
10-43612083-C-A c.2188C>A p.L730I Missense 12/20 - 5
10-43612083-C-G c.2188C>G p.L730V Missense 12/20 - 6
10-43612086-G-A c.2191G>A p.G731R Missense 12/20 - 1
10-43612084-TAGG-T c.2192_2194del p.G731del InFrameDeletion 12/20 - 1
10-43612087-G-A c.2192G>A p.G731E Missense 12/20 - 1
10-43612089-G-A c.2194G>A p.E732K Missense 12/20 - 5
10-43612095-G-A c.2200G>A p.E734K Missense 12/20 - 1
10-43612096-A-C c.2201A>C p.E734A Missense 12/20 - 1
10-43612108-T-C c.2213T>C p.V738A Missense 12/20 - 10
10-43612116-G-A c.2221G>A p.A741T Missense 12/20 - 1
10-43612117-C-G c.2222C>G p.A741G Missense 12/20 - 2
10-43612120-C-T c.2225C>T p.T742M Missense 12/20 - 1
10-43612137-G-T c.2242G>T p.G748C Missense 12/20 - 1
10-43612140-AGA-TGT c.2245_2247delinsTGT p.R749C Missense 12/20 - 1
10-43612141-G-A c.2246G>A p.R749K Missense 12/20 - 1
10-43612141-G-C c.2246G>C p.R749T Missense 12/20 - 1
10-43612143-G-A c.2248G>A p.A750T Missense 12/20 - 1
10-43612143-G-C c.2248G>C p.A750P Missense 12/20 - 2
10-43612141-GAGC-G c.2249_2251del p.A750del InFrameDeletion 12/20 - 1
10-43612144-C-G c.2249C>G p.A750G Missense 12/20 - 1
10-43612150-A-G c.2255A>G p.Y752C Missense 12/20 - 1
10-43612155-A-G c.2260A>G p.T754A Missense 12/20 - 1
10-43612157-G-C c.2262G>C p.T754= Synonymous 12/20 - 1
10-43612162-C-A c.2267C>A p.A756D Missense 12/20 - 1
10-43612162-C-T c.2267C>T p.A756V Missense 12/20 - 1
10-43612163-C-CTTCA c.2268_2269insTTCA p.V757Ffs*13 Frameshift 12/20 - 1
10-43612167-AA-GC c.2272_2273delinsGC p.K758A Missense 12/20 - 1
10-43612168-A-G c.2273A>G p.K758R Missense 12/20 - 5
10-43612168-A-T c.2273A>T p.K758M Missense 12/20 - 12
10-43612172-G-A c.2277G>A p.M759I Missense 12/20 - 1
10-43612172-G-C c.2277G>C p.M759I Missense 12/20 - 1
10-43612172-G-T c.2277G>T p.M759I Missense 12/20 - 1
10-43612179-G-C c.2284G>C p.E762Q Missense 12/20 - 2
10-43612225-G-C c.2284+46G>C - IntronicSNV - 12/19 1
10-43612226-C-A c.2284+47C>A - IntronicSNV - 12/19 2
10-43612226-C-G c.2284+47C>G - IntronicSNV - 12/19 2
10-43612226-C-T c.2284+47C>T - IntronicSNV - 12/19 4
10-43612609-C-T c.2284+430C>T - IntronicSNV - 12/19 7
10-43613824-A-G c.2288A>G p.N763S Missense 13/20 - 1
10-43613825-C-T c.2289C>T p.N763= Synonymous 13/20 - 1
10-43613826-G-A c.2290G>A p.A764T Missense 13/20 - 1
10-43613829-T-C c.2293T>C p.S765P Missense 13/20 - 4
10-43613830-C-T c.2294C>T p.S765F Missense 13/20 - 1
10-43613833-C-T c.2297C>T p.P766L Missense 13/20 - 2
10-43613834-G-T c.2298G>T p.P766= Synonymous 13/20 - 1
10-43613836-G-T c.2300G>T p.S767I Missense 13/20 - 1
10-43613835-A-C c.2299A>C p.S767R Missense 13/20 - 4
10-43613837-T-A c.2301T>A p.S767R Missense 13/20 - 4
10-43613837-T-G c.2301T>G p.S767R Missense 13/20 - 4
10-43613838-G-A c.2302G>A p.E768K Missense 13/20 - 2
10-43613838-GAG-AAC c.2302_2304delinsAAC p.E768N Missense 13/20 - 2
10-43613838-G-C c.2302G>C p.E768Q Missense 13/20 - 1
10-43613840-G-A c.2304G>A p.E768= Synonymous 13/20 - 2
10-43613840-G-C c.2304G>C p.E768D Missense 13/20 - 40
10-43613840-G-T c.2304G>T p.E768D Missense 13/20 - 40
10-43613841-CT-GC c.2305_2306delinsGC p.L769A Missense 13/20 - 1
10-43613841-C-T c.2305C>T p.L769= Synonymous 13/20 - 37
10-43613843-G-A c.2307G>A p.L769= Synonymous 13/20 - 72
10-43613843-G-C c.2307G>C p.L769= Synonymous 13/20 - 37
10-43613843-GC-TT c.2307_2308delinsTT p.R770* Missense 13/20 - 1
10-43613843-G-T c.2307G>T p.L769= Synonymous 13/20 - 69
10-43613844-CG-GC c.2308_2309delinsGC p.R770A Missense 13/20 - 1
10-43613844-C-T c.2308C>T p.R770* Nonsense 13/20 - 7
10-43613845-G-A c.2309G>A p.R770Q Missense 13/20 - 2
10-43613848-A-G c.2312A>G p.D771G Missense 13/20 - 1
10-43613850-CT-GC c.2314_2315delinsGC p.L772A Missense 13/20 - 1
10-43613853-CT-GC c.2317_2318delinsGC p.L773A Missense 13/20 - 1
10-43613860-A-GAC c.2324delinsGAC p.E775Gfs*6 Frameshift 13/20 - 1
10-43613862-T-C c.2326T>C p.F776L Missense 13/20 - 1
10-43613864-C-A c.2328C>A p.F776L Missense 13/20 - 1
10-43613864-C-G c.2328C>G p.F776L Missense 13/20 - 1
10-43613865-A-G c.2329A>G p.N777D Missense 13/20 - 1
10-43613866-A-G c.2330A>G p.N777S Missense 13/20 - 6
10-43613867-C-A c.2331C>A p.N777K Missense 13/20 - 1
10-43613868-G-A c.2332G>A p.V778I Missense 13/20 - 9
10-43613869-GT-G c.2333del p.V778Afs*2 Frameshift 13/20 - 4
10-43613869-T-A c.2333T>A p.V778D Missense 13/20 - 1
10-43613875-A-G c.2339A>G p.K780R Missense 13/20 - 1
10-43613878-A-G c.2342A>G p.Q781R Missense 13/20 - 7
10-43613884-A-G c.2348A>G p.N783S Missense 13/20 - 1
10-43613888-C-T c.2352C>T p.H784= Synonymous 13/20 - 1
10-43613890-C-T c.2354C>T p.P785L Missense 13/20 - 1
10-43613899-T-A c.2363T>A p.I788N Missense 13/20 - 10
10-43613899-T-G c.2363T>G p.I788S Missense 13/20 - 1
10-43613900-C-A c.2364C>A p.I788= Synonymous 13/20 - 1
10-43613900-C-T c.2364C>T p.I788= Synonymous 13/20 - 2
10-43613906-G-C c.2370G>C p.L790F Missense 13/20 - 45
10-43613906-G-T c.2370G>T p.L790F Missense 13/20 - 55
10-43613907-T-A c.2371T>A p.Y791N Missense 13/20 - 5
10-43613908-A-G c.2372A>G p.Y791C Missense 13/20 - 1
10-43613908-A-T c.2372A>T p.Y791F Missense 13/20 - 93
10-43613913-G-A c.2377G>A p.A793T Missense 13/20 - 1
10-43613921-C-A c.2385C>A p.S795R Missense 13/20 - 1
10-43613925-G-A c.2389G>A p.D797N Missense 13/20 - 1
10-43613926-A-T c.2390A>T p.D797V Missense 13/20 - 1
10-43613933-G-A c.2392+5G>A - IntronicSNV - 13/19 1
10-43613960-C-T c.2392+32C>T - IntronicSNV - 13/19 1
10-43614087-G-A c.2392+159G>A - IntronicSNV - 13/19 2
10-43614230-G-A c.2392+302G>A - IntronicSNV - 13/19 3
10-43614320-G-A c.2392+392G>A - IntronicSNV - 13/19 1
10-43614442-G-A c.2392+514G>A - IntronicSNV - 13/19 2
10-43614885-C-G c.2393-94C>G - IntronicSNV - 13/19 1
10-43614885-C-T c.2393-94C>T - IntronicSNV - 13/19 1
10-43614987-C-A c.2401C>A p.L801I Missense 14/20 - 1
10-43614995-C-A c.2409C>A p.I803= Synonymous 14/20 - 1
10-43614995-C-T c.2409C>T p.I803= Synonymous 14/20 - 2
10-43614996-G-A c.2410G>A p.V804M Missense 14/20 - 213
10-43614996-G-C c.2410G>C p.V804L Missense 14/20 - 107
10-43614996-G-T c.2410G>T p.V804L Missense 14/20 - 113
10-43614996-GT-AG c.2410_2411delinsAG p.V804R Missense 14/20 - 1
10-43614997-T-A c.2411T>A p.V804E Missense 14/20 - 1
10-43614997-T-C c.2411T>C p.V804A Missense 14/20 - 1
10-43614997-T-G c.2411T>G p.V804G Missense 14/20 - 4
10-43614998-G-A c.2412G>A p.V804= Synonymous 14/20 - 1
10-43614998-G-C c.2412G>C p.V804= Synonymous 14/20 - 1
10-43614998-G-T c.2412G>T p.V804= Synonymous 14/20 - 1
10-43614999-G-A c.2413G>A p.E805K Missense 14/20 - 12
10-43614999-G-T c.2413G>T p.E805* Nonsense 14/20 - 1
10-43615002-T-A c.2416T>A p.Y806N Missense 14/20 - 8
10-43615003-A-G c.2417A>G p.Y806C Missense 14/20 - 41
10-43615003-A-T c.2417A>T p.Y806F Missense 14/20 - 1
10-43615004-C-T c.2418C>T p.Y806= Synonymous 14/20 - 2
10-43615005-G-A c.2419G>A p.A807T Missense 14/20 - 1
10-43615005-G-C c.2419G>C p.A807P Missense 14/20 - 1
10-43615005-G-T c.2419G>T p.A807S Missense 14/20 - 1
10-43615006-C-T c.2420C>T p.A807V Missense 14/20 - 2
10-43615008-A-G c.2422A>G p.K808E Missense 14/20 - 1
10-43615009-A-C c.2423A>C p.K808T Missense 14/20 - 1
10-43615013-C-A c.2427C>A p.Y809* Nonsense 14/20 - 1
10-43615013-C-T c.2427C>T p.Y809= Synonymous 14/20 - 1
10-43615014-G-A c.2428G>A p.G810S Missense 14/20 - 20
10-43615014-G-C c.2428G>C p.G810R Missense 14/20 - 16
10-43615014-GGC-TGA c.2428_2430delinsTGA p.G810* Nonsense 14/20 - 1
10-43615014-G-T c.2428G>T p.G810C Missense 14/20 - 18
10-43615015-G-C c.2429G>C p.G810A Missense 14/20 - 14
10-43615015-G-T c.2429G>T p.G810V Missense 14/20 - 2
10-43615018-C-T c.2432C>T p.S811F Missense 14/20 - 2
10-43615023-C-T c.2437C>T p.R813W Missense 14/20 - 2
10-43615024-G-A c.2438G>A p.R813Q Missense 14/20 - 2
10-43615027-G-A c.2441G>A p.G814D Missense 14/20 - 1
10-43615033-TC-AA c.2447_2448delinsAA p.L816Q Missense 14/20 - 2
10-43615035-C-T c.2449C>T p.R817C Missense 14/20 - 1
10-43615038-G-A c.2452G>A p.E818K Missense 14/20 - 2
10-43615045-G-A c.2459G>A p.R820H Missense 14/20 - 2
10-43615045-G-T c.2459G>T p.R820L Missense 14/20 - 1
10-43615046-C-T c.2460C>T p.R820= Synonymous 14/20 - 1
10-43615047-A-C c.2461A>C p.K821Q Missense 14/20 - 1
10-43615047-A-G c.2461A>G p.K821E Missense 14/20 - 2
10-43615051-T-A c.2465T>A p.V822E Missense 14/20 - 1
10-43615057-C-T c.2471C>T p.P824L Missense 14/20 - 1
10-43615063-A-C c.2477A>C p.Y826S Missense 14/20 - 1
10-43615063-A-T c.2477A>T p.Y826F Missense 14/20 - 2
10-43615070-C-T c.2484C>T p.G828= Synonymous 14/20 - 1
10-43615074-G-A c.2488G>A p.G830R Missense 14/20 - 2
10-43615076-A-AT c.2490_2491insT p.G831Wfs*13 Frameshift 14/20 - 1
10-43615078-G-T c.2492G>T p.G831V Missense 14/20 - 1
10-43615083-C-T c.2497C>T p.R833C Missense 14/20 - 7
10-43615084-G-A c.2498G>A p.R833H Missense 14/20 - 2
10-43615090-C-G c.2504C>G p.S835C Missense 14/20 - 1
10-43615094-C-T c.2508C>T p.S836= Synonymous 14/20 - 49
10-43615095-T-G c.2509T>G p.S837A Missense 14/20 - 1
10-43615096-C-A c.2510C>A p.S837Y Missense 14/20 - 1
10-43615096-C-T c.2510C>T p.S837F Missense 14/20 - 1
10-43615101-G-A c.2515G>A p.D839N Missense 14/20 - 1
10-43615104-CA-GC c.2518_2519delinsGC p.H840A Missense 14/20 - 3
10-43615108-C-A c.2522C>A p.P841Q Missense 14/20 - 1
10-43615108-C-T c.2522C>T p.P841L Missense 14/20 - 2
10-43615109-G-A c.2523G>A p.P841= Synonymous 14/20 - 3
10-43615109-G-C c.2523G>C p.P841= Synonymous 14/20 - 1
10-43615109-G-T c.2523G>T p.P841= Synonymous 14/20 - 2
10-43615110-G-A c.2524G>A p.D842N Missense 14/20 - 1
10-43615110-GA-AT c.2524_2525delinsAT p.D842I Missense 14/20 - 1
10-43615110-G-T c.2524G>T p.D842Y Missense 14/20 - 2
10-43615111-A-T c.2525A>T p.D842V Missense 14/20 - 21
10-43615113-G-A c.2527G>A p.E843K Missense 14/20 - 2
10-43615116-C-G c.2530C>G p.R844G Missense 14/20 - 1
10-43615116-CGG-TGT c.2530_2532delinsTGT p.R844C Missense 14/20 - 1
10-43615116-C-T c.2530C>T p.R844W Missense 14/20 - 2
10-43615117-G-A c.2531G>A p.R844Q Missense 14/20 - 8
10-43615117-GG-AT c.2531_2532delinsAT p.R844H Missense 14/20 - 1
10-43615117-G-T c.2531G>T p.R844L Missense 14/20 - 6
10-43615124-C-A c.2538C>A p.L846= Synonymous 14/20 - 1
10-43615124-C-G c.2538C>G p.L846= Synonymous 14/20 - 1
10-43615124-C-T c.2538C>T p.L846= Synonymous 14/20 - 1
10-43615129-T-C c.2543T>C p.M848T Missense 14/20 - 2
10-43615129-T-G c.2543T>G p.M848R Missense 14/20 - 1
10-43615134-G-A c.2548G>A p.D850N Missense 14/20 - 1
10-43615136-C-G c.2550C>G p.D850E Missense 14/20 - 1
10-43615138-TC-AA c.2552_2553delinsAA p.L851Q Missense 14/20 - 1
10-43615138-T-G c.2552T>G p.L851R Missense 14/20 - 1
10-43615140-A-G c.2554A>G p.I852V Missense 14/20 - 1
10-43615142-C-G c.2556C>G p.I852M Missense 14/20 - 14
10-43615144-C-T c.2558C>T p.S853L Missense 14/20 - 1
10-43615164-C-T c.2578C>T p.Q860* Nonsense 14/20 - 5
10-43615169-G-T c.2583G>T p.G861= Synonymous 14/20 - 1
10-43615174-A-G c.2588A>G p.Q863R Missense 14/20 - 1
10-43615176-T-C c.2590T>C p.Y864H Missense 14/20 - 1
10-43615195-T-C c.2607+2T>C - IntronicSNV - 14/19 1
10-43615254-G-A c.2607+61G>A - IntronicSNV - 14/19 1
10-43615329-A-G c.2607+136A>G - IntronicSNV - 14/19 2
10-43615382-C-T c.2608-147C>T - IntronicSNV - 14/19 1
10-43615405-G-A c.2608-124G>A - IntronicSNV - 14/19 1
10-43615480-C-T c.2608-49C>T - IntronicSNV - 14/19 1
10-43615505-G-A c.2608-24G>A - IntronicSNV - 14/19 8
10-43615529-C-T c.2608C>T p.L870F Missense 15/20 - 1
10-43615532-G-A c.2611G>A p.V871I Missense 15/20 - 7
10-43615533-T-C c.2612T>C p.V871A Missense 15/20 - 1
10-43615536-A-T c.2615A>T p.H872L Missense 15/20 - 1
10-43615538-C-T c.2617C>T p.R873W Missense 15/20 - 1
10-43615539-G-A c.2618G>A p.R873Q Missense 15/20 - 2
10-43615540-G-A c.2619G>A p.R873= Synonymous 15/20 - 1
10-43615541-G-T c.2620G>T p.D874Y Missense 15/20 - 1
10-43615542-A-G c.2621A>G p.D874G Missense 15/20 - 1
10-43615548-C-T c.2627C>T p.A876V Missense 15/20 - 1
10-43615549-A-G c.2628A>G p.A876= Synonymous 15/20 - 1
10-43615553-A-G c.2632A>G p.R878G Missense 15/20 - 1
10-43615557-A-G c.2636A>G p.N879S Missense 15/20 - 1
10-43615559-A-G c.2638A>G p.I880V Missense 15/20 - 1
10-43615562-C-G c.2641C>G p.L881V Missense 15/20 - 2
10-43615566-T-C c.2645T>C p.V882A Missense 15/20 - 2
10-43615567-A-C c.2646A>C p.V882= Synonymous 15/20 - 1
10-43615567-A-G c.2646A>G p.V882= Synonymous 15/20 - 1
10-43615567-AGC-TTT c.2646_2648delinsTTT p.A883F Missense 15/20 - 1
10-43615567-A-T c.2646A>T p.V882= Synonymous 15/20 - 1
10-43615568-G-A c.2647G>A p.A883T Missense 15/20 - 8
10-43615568-GC-TT c.2647_2648delinsTT p.A883F Missense 15/20 - 93
10-43615568-G-T c.2647G>T p.A883S Missense 15/20 - 1
10-43615569-C-T c.2648C>T p.A883V Missense 15/20 - 2
10-43615572-A-T c.2651A>T p.E884V Missense 15/20 - 5
10-43615573-G-C c.2652G>C p.E884D Missense 15/20 - 1
10-43615574-G-T c.2653G>T p.G885W Missense 15/20 - 1
10-43615577-C-G c.2656C>G p.R886G Missense 15/20 - 1
10-43615577-C-T c.2656C>T p.R886W Missense 15/20 - 4
10-43615578-G-A c.2657G>A p.R886Q Missense 15/20 - 3
10-43615581-A-G c.2660A>G p.K887R Missense 15/20 - 1
10-43615582-G-T c.2661G>T p.K887N Missense 15/20 - 1
10-43615583-A-G c.2662A>G p.M888V Missense 15/20 - 1
10-43615585-G-A c.2664G>A p.M888I Missense 15/20 - 1
10-43615592-T-G c.2671T>G p.S891A Missense 15/20 - 60
10-43615593-C-T c.2672C>T p.S891L Missense 15/20 - 4
10-43615594-G-A c.2673G>A p.S891= Synonymous 15/20 - 1
10-43615595-G-A c.2674G>A p.D892N Missense 15/20 - 1
10-43615598-T-C c.2677T>C p.F893L Missense 15/20 - 2
10-43615600-C-A c.2679C>A p.F893L Missense 15/20 - 2
10-43615600-C-G c.2679C>G p.F893L Missense 15/20 - 2
10-43615600-C-T c.2679C>T p.F893= Synonymous 15/20 - 1
10-43615601-G-A c.2680G>A p.G894S Missense 15/20 - 2
10-43615601-GG-AC c.2680_2681delinsAC p.G894T Missense 15/20 - 2
10-43615610-C-A c.2689C>A p.R897= Synonymous 15/20 - 1
10-43615612-A-C c.2691A>C p.R897= Synonymous 15/20 - 1
10-43615612-A-G c.2691A>G p.R897= Synonymous 15/20 - 1
10-43615612-A-T c.2691A>T p.R897= Synonymous 15/20 - 1
10-43615611-G-A c.2690G>A p.R897Q Missense 15/20 - 7
10-43615613-G-T c.2692G>T p.D898Y Missense 15/20 - 2
10-43615611-GAGATGTTTATGA-G c.2694_2705del p.D898_E901del InFrameDeletion 15/20 - 5
10-43615620-A-T c.2699A>T p.Y900F Missense 15/20 - 3
10-43615621-T-A c.2700T>A p.Y900* Nonsense 15/20 - 2
10-43615621-T-G c.2700T>G p.Y900* Nonsense 15/20 - 2
10-43615622-G-A c.2701G>A p.E901K Missense 15/20 - 1
10-43615621-TGAA-T c.2703_2705del p.E902del InFrameDeletion 15/20 - 5
10-43615624-AGAG-A c.2706_2708del p.E902del InFrameDeletion 15/20 - 2
10-43615628-G-A c.2707G>A p.D903N Missense 15/20 - 2
10-43615631-T-C c.2710T>C p.S904P Missense 15/20 - 1
10-43615631-TCC-GAGCCT c.2710_2712delinsGAGCCT p.S904delinsEP MultiAAMissense 15/20 - 1
10-43615631-TC-CT c.2710_2711delinsCT p.S904L Missense 15/20 - 2
10-43615632-C-A c.2711C>A p.S904Y Missense 15/20 - 1
10-43615632-C-G c.2711C>G p.S904C Missense 15/20 - 13
10-43615632-C-T c.2711C>T p.S904F Missense 15/20 - 24
10-43615633-C-A c.2712C>A p.S904= Synonymous 15/20 - 48
10-43615633-C-G c.2712C>G p.S904= Synonymous 15/20 - 45
10-43615633-C-T c.2712C>T p.S904= Synonymous 15/20 - 5
10-43615635-A-T c.2714A>T p.Y905F Missense 15/20 - 7
10-43615637-G-A c.2716G>A p.V906M Missense 15/20 - 1
10-43615640-A-G c.2719A>G p.K907E Missense 15/20 - 2
10-43615646-AG-GA c.2725_2726delinsGA p.S909D Missense 15/20 - 1
10-43615646-AG-GC c.2725_2726delinsGC p.S909A Missense 15/20 - 2
10-43615880-T-C c.2730+229T>C - IntronicSNV - 15/19 2
10-43615908-C-T c.2730+257C>T - IntronicSNV - 15/19 3
10-43615973-C-T c.2730+322C>T - IntronicSNV - 15/19 2
10-43616082-G-A c.2730+431G>A - IntronicSNV - 15/19 1
10-43616181-A-G c.2730+530A>G - IntronicSNV - 15/19 2
10-43616325-A-G c.2730+674A>G - IntronicSNV - 15/19 2
10-43617395-G-C c.2732G>C p.G911A Missense 16/20 - 1
10-43617397-CG-GC c.2734_2735delinsGC p.R912A Missense 16/20 - 1
10-43617397-C-T c.2734C>T p.R912W Missense 16/20 - 1
10-43617398-G-A c.2735G>A p.R912Q Missense 16/20 - 7
10-43617398-G-C c.2735G>C p.R912P Missense 16/20 - 15
10-43617400-AT-GC c.2737_2738delinsGC p.I913A Missense 16/20 - 1
10-43617412-T-A c.2749T>A p.W917R Missense 16/20 - 1
10-43617412-T-C c.2749T>C p.W917R Missense 16/20 - 1
10-43617415-A-C c.2752A>C p.M918L Missense 16/20 - 1
10-43617415-A-G c.2752A>G p.M918V Missense 16/20 - 7
10-43617415-A-T c.2752A>T p.M918L Missense 16/20 - 1
10-43617415-ATG-TAT c.2752_2754delinsTAT p.M918Y Missense 16/20 - 1
10-43617416-T-C c.2753T>C p.M918T Missense 16/20 - 484
10-43617416-T-G c.2753T>G p.M918R Missense 16/20 - 2
10-43617418-G-A c.2755G>A p.A919T Missense 16/20 - 1
10-43617418-G-C c.2755G>C p.A919P Missense 16/20 - 1
10-43617419-C-T c.2756C>T p.A919V Missense 16/20 - 3
10-43617424-G-A c.2761G>A p.E921K Missense 16/20 - 6
10-43617424-G-T c.2761G>T p.E921* Nonsense 16/20 - 2
10-43617428-C-A c.2765C>A p.S922Y Missense 16/20 - 1
10-43617430-C-T c.2767C>T p.L923F Missense 16/20 - 1
10-43617430-C-CT c.2772dup p.D925* Nonsense 16/20 - 1
10-43617437-A-C c.2774A>C p.D925A Missense 16/20 - 1
10-43617446-A-G c.2783A>G p.Y928C Missense 16/20 - 1
10-43617452-C-T c.2789C>T p.T930M Missense 16/20 - 1
10-43617457-A-G c.2794A>G p.S932G Missense 16/20 - 1
10-43617458-G-C c.2795G>C p.S932T Missense 16/20 - 1
10-43617466-T-C c.2801+2T>C - IntronicSNV - 16/19 1
10-43617514-TATACATGTAGTGGGGCCACGACGCCC-T c.2801+50_2801+75del - IntronicDeletion - 16/19 1
10-43617518-A-T c.2801+54A>T - IntronicSNV - 16/19 3
10-43617536-G-A c.2801+72G>A - IntronicSNV - 16/19 1
10-43617707-G-C c.2801+243G>C - IntronicSNV - 16/19 1
10-43618395-C-A c.2802-724C>A - IntronicSNV - 16/19 1
10-43619124-C-G c.2807C>G p.S936C Missense 17/20 - 1
10-43619124-C-T c.2807C>T p.S936F Missense 17/20 - 2
10-43619136-T-A c.2819T>A p.L940Q Missense 17/20 - 1
10-43619142-G-A c.2825G>A p.W942* Nonsense 17/20 - 1
10-43619143-G-A c.2826G>A p.W942* Nonsense 17/20 - 1
10-43619149-C-G c.2832C>G p.I944M Missense 17/20 - 2
10-43619150-G-A c.2833G>A p.V945M Missense 17/20 - 1
10-43619153-AC-A c.2839del p.L947* Frameshift 17/20 - 1
10-43619161-G-A c.2844G>A p.G948= Synonymous 17/20 - 1
10-43619162-G-A c.2845G>A p.G949R Missense 17/20 - 1
10-43619162-G-C c.2845G>C p.G949R Missense 17/20 - 1
10-43619168-C-T c.2851C>T p.P951S Missense 17/20 - 1
10-43619169-C-A c.2852C>A p.P951H Missense 17/20 - 1
10-43619174-C-A c.2857C>A p.P953T Missense 17/20 - 1
10-43619174-CCT-AAG c.2857_2859delinsAAG p.P953K Missense 17/20 - 1
10-43619174-C-T c.2857C>T p.P953S Missense 17/20 - 1
10-43619175-C-T c.2858C>T p.P953L Missense 17/20 - 2
10-43619176-T-A c.2859T>A p.P953= Synonymous 17/20 - 1
10-43619179-G-A c.2862G>A p.G954= Synonymous 17/20 - 1
10-43619179-G-C c.2862G>C p.G954= Synonymous 17/20 - 1
10-43619179-G-T c.2862G>T p.G954= Synonymous 17/20 - 1
10-43619193-G-A c.2876G>A p.R959Q Missense 17/20 - 1
10-43619198-T-C c.2881T>C p.F961L Missense 17/20 - 1
10-43619200-C-A c.2883C>A p.F961L Missense 17/20 - 1
10-43619200-C-G c.2883C>G p.F961L Missense 17/20 - 1
10-43619207-C-G c.2890C>G p.L964V Missense 17/20 - 1
10-43619209-G-A c.2892G>A p.L964= Synonymous 17/20 - 1
10-43619214-C-T c.2897C>T p.T966I Missense 17/20 - 1
10-43619216-G-A c.2899G>A p.G967S Missense 17/20 - 1
10-43619222-C-T c.2905C>T p.R969W Missense 17/20 - 1
10-43619223-G-A c.2906G>A p.R969Q Missense 17/20 - 2
10-43619231-A-G c.2914A>G p.R972G Missense 17/20 - 4
10-43619232-G-T c.2915G>T p.R972M Missense 17/20 - 1
10-43619235-C-T c.2918C>T p.P973L Missense 17/20 - 2
10-43619256-T-C c.2939T>C p.M980T Missense 17/20 - 5
10-43619262-C-T c.2939+6C>T - IntronicSNV - 17/19 1
10-43619289-T-A c.2939+33T>A - IntronicSNV - 17/19 1
10-43620333-A-T c.2942A>T p.Y981F Missense 18/20 - 12
10-43620334-C-G c.2943C>G p.Y981* Nonsense 18/20 - 2
10-43620335-C-T c.2944C>T p.R982C Missense 18/20 - 26
10-43620336-G-A c.2945G>A p.R982H Missense 18/20 - 4
10-43620365-C-A c.2974C>A p.P992T Missense 18/20 - 1
10-43620366-C-G c.2975C>G p.P992R Missense 18/20 - 1
10-43620366-C-T c.2975C>T p.P992L Missense 18/20 - 3
10-43620367-G-A c.2976G>A p.P992= Synonymous 18/20 - 1
10-43620367-G-C c.2976G>C p.P992= Synonymous 18/20 - 1
10-43620367-G-T c.2976G>T p.P992= Synonymous 18/20 - 2
10-43620378-C-A c.2987C>A p.P996Q Missense 18/20 - 1
10-43620379-G-A c.2988G>A p.P996= Synonymous 18/20 - 1
10-43620383-T-C c.2992T>C p.F998L Missense 18/20 - 1
10-43620383-T-G c.2992T>G p.F998V Missense 18/20 - 2
10-43620385-T-A c.2994T>A p.F998L Missense 18/20 - 1
10-43620385-T-G c.2994T>G p.F998L Missense 18/20 - 1
10-43620387-C-G c.2996C>G p.A999G Missense 18/20 - 1
10-43620387-C-T c.2996C>T p.A999V Missense 18/20 - 3
10-43620389-G-A c.2998G>A p.D1000N Missense 18/20 - 1
10-43620396-G-T c.3005G>T p.S1002I Missense 18/20 - 1
10-43620417-T-C c.3026T>C p.M1009T Missense 18/20 - 2
10-43620422-A-G c.3031A>G p.K1011E Missense 18/20 - 1
10-43620551-G-A c.3039+121G>A - IntronicSNV - 18/19 2
10-43621323-C-G c.3040-700C>G - IntronicSNV - 18/19 1
10-43621323-C-T c.3040-700C>T - IntronicSNV - 18/19 1
10-43622027-A-T c.3044A>T p.Y1015F Missense 19/20 - 15
10-43622028-C-A c.3045C>A p.Y1015* Nonsense 19/20 - 1
10-43622028-C-G c.3045C>G p.Y1015* Nonsense 19/20 - 1
10-43622029-T-C c.3046T>C p.L1016= Synonymous 19/20 - 1
10-43622031-G-A c.3048G>A p.L1016= Synonymous 19/20 - 1
10-43622030-T-C c.3047T>C p.L1016S Missense 19/20 - 1
10-43622032-G-A c.3049G>A p.D1017N Missense 19/20 - 1
10-43622035-C-T c.3052C>T p.L1018F Missense 19/20 - 1
10-43622036-T-A c.3053T>A p.L1018H Missense 19/20 - 1
10-43622039-C-T c.3056C>T p.A1019V Missense 19/20 - 3
10-43622044-T-C c.3061T>C p.S1021P Missense 19/20 - 1
10-43622054-C-T c.3071C>T p.S1024F Missense 19/20 - 1
10-43622062-C-G c.3079C>G p.L1027V Missense 19/20 - 1
10-43622065-ATT-TAA c.3082_3084delinsTAA p.I1028* Nonsense 19/20 - 1
10-43622069-A-T c.3086A>T p.Y1029F Missense 19/20 - 1
10-43622073-C-T c.3090C>T p.D1030= Synonymous 19/20 - 1
10-43622074-G-A c.3091G>A p.D1031N Missense 19/20 - 2
10-43622076-C-T c.3093C>T p.D1031= Synonymous 19/20 - 1
10-43622078-G-T c.3095G>T p.G1032V Missense 19/20 - 1
10-43622095-A-G c.3112A>G p.T1038A Missense 19/20 - 7
10-43622096-C-T c.3113C>T p.T1038I Missense 19/20 - 1
10-43622099-C-A c.3116C>A p.P1039Q Missense 19/20 - 1
10-43622099-C-T c.3116C>T p.P1039L Missense 19/20 - 2
10-43622103-G-C c.3120G>C p.L1040= Synonymous 19/20 - 1
10-43622122-C-T c.3139C>T p.P1047S Missense 19/20 - 2
10-43622119-GC-G c.3142del p.L1048Sfs*61 Frameshift 19/20 - 1
10-43622125-C-G c.3142C>G p.L1048V Missense 19/20 - 2
10-43622131-C-G c.3148C>G p.R1050G Missense 19/20 - 1
10-43622131-C-T c.3148C>T p.R1050* Nonsense 19/20 - 2
10-43622132-G-A c.3149G>A p.R1050Q Missense 19/20 - 1
10-43622134-G-A c.3151G>A p.A1051T Missense 19/20 - 1
10-43622135-C-T c.3152C>T p.A1051V Missense 19/20 - 2
10-43622156-A-G c.3173A>G p.E1058G Missense 19/20 - 1
10-43622165-T-C c.3182T>C p.L1061P Missense 19/20 - 1
10-43622167-TA-CC c.3184_3185delinsCC p.Y1062P Missense 19/20 - 1
10-43622168-A-G c.3185A>G p.Y1062C Missense 19/20 - 5
10-43622168-A-T c.3185A>T p.Y1062F Missense 19/20 - 34
10-43622170-G-T c.3187G>T p.G1063C Missense 19/20 - 1
10-43622217-T-C c.3187+47T>C - IntronicSNV - 19/19 7
10-43622368-T-A c.3187+198T>A - IntronicSNV - 19/19 2
10-43622368-T-C c.3187+198T>C - IntronicSNV - 19/19 2
10-43622368-T-G c.3187+198T>G - IntronicSNV - 19/19 2
10-43622933-T-A c.3188-627T>A - IntronicSNV - 19/19 4
10-43622933-T-C c.3188-627T>C - IntronicSNV - 19/19 4
10-43623560-GC-AG c.3188_3189delinsAG p.G1063E Missense 20/20 - 1
10-43623562-A-C c.3190A>C p.M1064L Missense 20/20 - 1
10-43623563-T-C c.3191T>C p.M1064T Missense 20/20 - 4
10-43623563-T-G c.3191T>G p.M1064R Missense 20/20 - 1
10-43623564-G-A c.3192G>A p.M1064I Missense 20/20 - 1
10-43623565-TC-AT c.3193_3194delinsAT p.S1065I Missense 20/20 - 1
10-43623568-G-A c.3196G>A p.D1066N Missense 20/20 - 1
10-43623573-G-GT c.3201_3202insT p.N1068* Nonsense 20/20 - 1
10-43623580-C-T c.3208C>T p.P1070S Missense 20/20 - 1
10-43623584-G-A c.3212G>A p.G1071E Missense 20/20 - 1
10-43623588-G-T c.3216G>T p.E1072D Missense 20/20 - 1
10-43623599-C-A c.3227C>A p.P1076Q Missense 20/20 - 1
10-43623603-C-A c.3231C>A p.L1077= Synonymous 20/20 - 1
10-43623603-C-G c.3231C>G p.L1077= Synonymous 20/20 - 1
10-43623603-C-T c.3231C>T p.L1077= Synonymous 20/20 - 1
10-43623605-C-T c.3233C>T p.T1078M Missense 20/20 - 3
10-43623615-AT-A c.3243del p.D1081Efs*28 Frameshift 20/20 - 1
10-43623619-A-G c.3247A>G p.T1083A Missense 20/20 - 1
10-43623625-A-G c.3253A>G p.T1085A Missense 20/20 - 2
10-43623629-G-C c.3257G>C p.G1086A Missense 20/20 - 1
10-43623638-G-T c.3266G>T p.R1089I Missense 20/20 - 1
10-43623637-A-C c.3265A>C p.R1089= Synonymous 20/20 - 1
10-43623639-A-G c.3267A>G p.R1089= Synonymous 20/20 - 1
10-43623642-T-A c.3270T>A p.Y1090* Nonsense 20/20 - 3
10-43623642-T-G c.3270T>G p.Y1090* Nonsense 20/20 - 2
10-43623644-C-T c.3272C>T p.P1091L Missense 20/20 - 1
10-43623647-A-G c.3275A>G p.N1092S Missense 20/20 - 1
10-43623648-T-A c.3276T>A p.N1092K Missense 20/20 - 1
10-43623648-T-G c.3276T>G p.N1092K Missense 20/20 - 1
10-43623650-A-G c.3278A>G p.D1093G Missense 20/20 - 1
10-43623652-A-C c.3280A>C p.S1094R Missense 20/20 - 1
10-43623654-T-A c.3282T>A p.S1094R Missense 20/20 - 1
10-43623654-T-G c.3282T>G p.S1094R Missense 20/20 - 1
10-43623659-A-T c.3287A>T p.Y1096F Missense 20/20 - 2
10-43623686-C-G c.3314C>G p.A1105G Missense 20/20 - 1
10-43623686-C-T c.3314C>T p.A1105V Missense 20/20 - 2
10-43623686-CG-C c.3316del p.A1106Qfs*3 Frameshift 20/20 - 1
10-43623698-T-C c.3326T>C p.M1109T Missense 20/20 - 1
10-43623699-G-A c.3327G>A p.M1109I Missense 20/20 - 1
10-43623699-G-C c.3327G>C p.M1109I Missense 20/20 - 1
10-43623699-G-T c.3327G>T p.M1109I Missense 20/20 - 1
10-43623709-G-C c.3337G>C p.D1113H Missense 20/20 - 1
10-43623812-C-T c.*95C>T - 3-UTRSNV 20/20 - 7
10-43624105-G-A c.*388G>A - 3-UTRSNV 20/20 - 1
10-43624317-A-G c.*600A>G - 3-UTRSNV 20/20 - 2
10-43624317-A-T c.*600A>T - 3-UTRSNV 20/20 - 2
10-43624763-G-A c.*1046G>A - 3-UTRSNV 20/20 - 1
10-43624763-G-C c.*1046G>C - 3-UTRSNV 20/20 - 1
10-43624833-T-C c.*1116T>C - 3-UTRSNV 20/20 - 3
10-43625223-G-A c.*1506G>A - 3-UTRSNV 20/20 - 2
10-43625308-G-A c.*1591G>A - 3-UTRSNV 20/20 - 2
10-43625686-T-C c.*1969T>C - 3-UTRSNV 20/20 - 5